Canonical Allele Identifier: CA2582641443

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399755-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399755G>A , CM000681.2:g.1399755G>A	GRCh38
NC_000019.9:g.1399754G>A , CM000681.1:g.1399754G>A	GRCh37
NC_000019.8:g.1350754G>A	NCBI36
NG_009785.1:g.6799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+38C>T MANE Select	ENSP00000252288.1:n.327+38C>T
ENST00000447102.8:c.327+38C>T	ENSP00000403536.2:n.327+38C>T
ENST00000591788.3:c.10+38C>T
ENST00000640762.1:c.258+38C>T	ENSP00000492031.1:n.258+38C>T
ENST00000252288.6:c.327+38C>T	ENSP00000252288.1:n.327+38C>T
ENST00000447102.7:c.327+38C>T	ENSP00000403536.2:n.327+38C>T
ENST00000591788.2:c.12+38C>T	ENSP00000466341.2:n.12+38C>T
NM_000156.5:c.327+38C>T	NP_000147.1:n.327+38C>T
NM_138924.2:c.327+38C>T	NP_620279.1:n.327+38C>T
NM_000156.6:c.327+38C>T MANE Select	NP_000147.1:n.327+38C>T
NM_138924.3:c.327+38C>T	NP_620279.1:n.327+38C>T