Canonical Allele Identifier: CA402996166

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399810-G-C
• MyVariant Identifiers: chr19:g.1399809G>C (hg19) ; chr19:g.1399810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399810G>C , CM000681.2:g.1399810G>C	GRCh38
NC_000019.9:g.1399809G>C , CM000681.1:g.1399809G>C	GRCh37
NC_000019.8:g.1350809G>C	NCBI36
NG_009785.1:g.6744C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.310C>G MANE Select	ENSP00000252288.1:p.Pro104Ala
ENST00000447102.8:c.310C>G	ENSP00000403536.2:p.Pro104Ala
ENST00000640762.1:c.241C>G	ENSP00000492031.1:p.Pro81Ala
ENST00000252288.6:c.310C>G	ENSP00000252288.1:p.Pro104Ala
ENST00000447102.7:c.310C>G	ENSP00000403536.2:p.Pro104Ala
NM_000156.5:c.310C>G	NP_000147.1:p.Pro104Ala
NM_138924.2:c.310C>G	NP_620279.1:p.Pro104Ala
NM_000156.6:c.310C>G MANE Select	NP_000147.1:p.Pro104Ala
NM_138924.3:c.310C>G	NP_620279.1:p.Pro104Ala