Canonical Allele Identifier: CA402994797

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399026C>A (hg19) ; chr19:g.1399027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399027C>A , CM000681.2:g.1399027C>A	GRCh38
NC_000019.9:g.1399026C>A , CM000681.1:g.1399026C>A	GRCh37
NC_000019.8:g.1350026C>A	NCBI36
NG_009785.1:g.7527G>T

Transcript Alleles

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