Canonical Allele Identifier: CA8424561
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs771838274
ExAC: 17:18049208 C / T
gnomAD v2: 17-18049208-C-T
gnomAD v4: 17-18145894-C-T
MyVariant Identifiers: chr17:g.18049208C>T (hg19) chr17:g.18145894C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145894C>T , CM000679.2:g.18145894C>T GRCh38
NC_000017.10:g.18049208C>T , CM000679.1:g.18049208C>T GRCh37
NC_000017.9:g.17989933C>T NCBI36
NG_011634.1:g.42189C>T
NG_011634.2:g.42189C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6296C>T MANE Select ENSP00000495481.1:p.Pro2099Leu
ENST00000205890.9:c.6296C>T ENSP00000205890.5:p.Pro2099Leu
ENST00000615845.4:c.6296C>T ENSP00000481642.1:p.Pro2099Leu
NM_016239.3:c.6296C>T NP_057323.3:p.Pro2099Leu
XM_011523917.1:c.6236C>T XP_011522219.1:p.Pro2079Leu
XM_011523918.1:c.6236C>T XP_011522220.1:p.Pro2079Leu
XM_011523921.1:c.6290C>T XP_011522223.1:p.Pro2097Leu
XR_934037.1:n.6895C>T
XR_934038.1:n.6895C>T
XM_011523918.2:c.6236C>T XP_011522220.1:p.Pro2079Leu
XM_017024714.2:c.6236C>T XP_016880203.1:p.Pro2079Leu
XM_017024715.2:c.6299C>T XP_016880204.1:p.Pro2100Leu
XM_024450781.1:c.6213+1302C>T XP_024306549.1:n.6213+1302C>T
NM_016239.4:c.6296C>T MANE Select NP_057323.3:p.Pro2099Leu
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