Canonical Allele Identifier: CA314810
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205583
ClinVar RCV Id: RCV000187568 RCV001827999 RCV002516991
dbSNP Id: rs770110177
ExAC: 19:1398974 G / C
gnomAD v2: 19-1398974-G-C
gnomAD v4: 19-1398975-G-C
MyVariant Identifiers: chr19:g.1398974G>C (hg19) chr19:g.1398975G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398975G>C , CM000681.2:g.1398975G>C GRCh38
NC_000019.9:g.1398974G>C , CM000681.1:g.1398974G>C GRCh37
NC_000019.8:g.1349974G>C NCBI36
NG_009785.1:g.7579C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.511C>G MANE Select ENSP00000252288.1:p.Leu171Val
ENST00000447102.8:c.511C>G ENSP00000403536.2:p.Leu171Val
ENST00000591788.3:c.194C>G
ENST00000640164.1:n.344C>G
ENST00000640762.1:c.442C>G ENSP00000492031.1:p.Leu148Val
ENST00000252288.6:c.511C>G ENSP00000252288.1:p.Leu171Val
ENST00000447102.7:c.511C>G ENSP00000403536.2:p.Leu171Val
ENST00000591788.2:c.196C>G ENSP00000466341.2:p.Leu66Val
NM_000156.5:c.511C>G NP_000147.1:p.Leu171Val
NM_138924.2:c.511C>G NP_620279.1:p.Leu171Val
NM_000156.6:c.511C>G MANE Select NP_000147.1:p.Leu171Val
NM_138924.3:c.511C>G NP_620279.1:p.Leu171Val
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