Canonical Allele Identifier: CA402998296

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401412-G-A
• MyVariant Identifiers: chr19:g.1401411G>A (hg19) ; chr19:g.1401412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401412G>A , CM000681.2:g.1401412G>A	GRCh38
NC_000019.9:g.1401411G>A , CM000681.1:g.1401411G>A	GRCh37
NC_000019.8:g.1352411G>A	NCBI36
NG_009785.1:g.5142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.65C>T MANE Select	ENSP00000252288.1:p.Ala22Val
ENST00000447102.8:c.65C>T	ENSP00000403536.2:p.Ala22Val
ENST00000640762.1:c.65C>T	ENSP00000492031.1:p.Ala22Val
ENST00000252288.6:c.65C>T	ENSP00000252288.1:p.Ala22Val
ENST00000447102.7:c.65C>T	ENSP00000403536.2:p.Ala22Val
NM_000156.5:c.65C>T	NP_000147.1:p.Ala22Val
NM_138924.2:c.65C>T	NP_620279.1:p.Ala22Val
NM_000156.6:c.65C>T MANE Select	NP_000147.1:p.Ala22Val
NM_138924.3:c.65C>T	NP_620279.1:p.Ala22Val