Canonical Allele Identifier: CA402998580
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 941928
ClinVar RCV Id: RCV001211804
dbSNP Id: rs2082634017
MyVariant Identifiers: chr19:g.1401473C>T (hg19) chr19:g.1401474C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401474C>T , CM000681.2:g.1401474C>T GRCh38
NC_000019.9:g.1401473C>T , CM000681.1:g.1401473C>T GRCh37
NC_000019.8:g.1352473C>T NCBI36
NG_009785.1:g.5080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.3G>A MANE Select ENSP00000252288.1:p.Met1Ile
ENST00000447102.8:c.3G>A ENSP00000403536.2:p.Met1Ile
ENST00000640762.1:c.3G>A ENSP00000492031.1:p.Met1Ile
ENST00000252288.6:c.3G>A ENSP00000252288.1:p.Met1Ile
ENST00000447102.7:c.3G>A ENSP00000403536.2:p.Met1Ile
NM_000156.5:c.3G>A NP_000147.1:p.Met1Ile
NM_138924.2:c.3G>A NP_620279.1:p.Met1Ile
NM_000156.6:c.3G>A MANE Select NP_000147.1:p.Met1Ile
NM_138924.3:c.3G>A NP_620279.1:p.Met1Ile
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