Canonical Allele Identifier: CA398607281
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18146071-T-C
MyVariant Identifiers: chr17:g.18049385T>C (hg19) chr17:g.18146071T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146071T>C , CM000679.2:g.18146071T>C GRCh38
NC_000017.10:g.18049385T>C , CM000679.1:g.18049385T>C GRCh37
NC_000017.9:g.17990110T>C NCBI36
NG_011634.1:g.42366T>C
NG_011634.2:g.42366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6473T>C MANE Select ENSP00000495481.1:p.Phe2158Ser
ENST00000205890.9:c.6473T>C ENSP00000205890.5:p.Phe2158Ser
ENST00000578999.1:n.58T>C
ENST00000615845.4:c.6473T>C ENSP00000481642.1:p.Phe2158Ser
NM_016239.3:c.6473T>C NP_057323.3:p.Phe2158Ser
XM_011523917.1:c.6413T>C XP_011522219.1:p.Phe2138Ser
XM_011523918.1:c.6342+71T>C XP_011522220.1:n.6342+71T>C
XM_011523921.1:c.6467T>C XP_011522223.1:p.Phe2156Ser
XR_934037.1:n.7072T>C
XR_934038.1:n.7072T>C
XM_011523918.2:c.6342+71T>C XP_011522220.1:n.6342+71T>C
XM_017024714.2:c.6413T>C XP_016880203.1:p.Phe2138Ser
XM_017024715.2:c.6476T>C XP_016880204.1:p.Phe2159Ser
XM_024450781.1:c.6213+1479T>C XP_024306549.1:n.6213+1479T>C
NM_016239.4:c.6473T>C MANE Select NP_057323.3:p.Phe2158Ser
Search 100 bp 5'
Search 100 bp 3'