Canonical Allele Identifier: CA2582641075

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399055-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399055G>A , CM000681.2:g.1399055G>A	GRCh38
NC_000019.9:g.1399054G>A , CM000681.1:g.1399054G>A	GRCh37
NC_000019.8:g.1350054G>A	NCBI36
NG_009785.1:g.7499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.460-29C>T MANE Select	ENSP00000252288.1:n.460-29C>T
ENST00000447102.8:c.460-29C>T	ENSP00000403536.2:n.460-29C>T
ENST00000591788.3:c.143-29C>T
ENST00000640164.1:n.293-29C>T
ENST00000640762.1:c.391-29C>T	ENSP00000492031.1:n.391-29C>T
ENST00000252288.6:c.460-29C>T	ENSP00000252288.1:n.460-29C>T
ENST00000447102.7:c.460-29C>T	ENSP00000403536.2:n.460-29C>T
ENST00000591788.2:c.145-29C>T	ENSP00000466341.2:n.145-29C>T
NM_000156.5:c.460-29C>T	NP_000147.1:n.460-29C>T
NM_138924.2:c.460-29C>T	NP_620279.1:n.460-29C>T
NM_000156.6:c.460-29C>T MANE Select	NP_000147.1:n.460-29C>T
NM_138924.3:c.460-29C>T	NP_620279.1:n.460-29C>T