Canonical Allele Identifier: CA2582641463

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399771-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399771G>A , CM000681.2:g.1399771G>A	GRCh38
NC_000019.9:g.1399770G>A , CM000681.1:g.1399770G>A	GRCh37
NC_000019.8:g.1350770G>A	NCBI36
NG_009785.1:g.6783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+22C>T MANE Select	ENSP00000252288.1:n.327+22C>T
ENST00000447102.8:c.327+22C>T	ENSP00000403536.2:n.327+22C>T
ENST00000591788.3:c.10+22C>T
ENST00000640762.1:c.258+22C>T	ENSP00000492031.1:n.258+22C>T
ENST00000252288.6:c.327+22C>T	ENSP00000252288.1:n.327+22C>T
ENST00000447102.7:c.327+22C>T	ENSP00000403536.2:n.327+22C>T
ENST00000591788.2:c.12+22C>T	ENSP00000466341.2:n.12+22C>T
NM_000156.5:c.327+22C>T	NP_000147.1:n.327+22C>T
NM_138924.2:c.327+22C>T	NP_620279.1:n.327+22C>T
NM_000156.6:c.327+22C>T MANE Select	NP_000147.1:n.327+22C>T
NM_138924.3:c.327+22C>T	NP_620279.1:n.327+22C>T