Canonical Allele Identifier: CA2582641070

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399041-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399041T>G , CM000681.2:g.1399041T>G	GRCh38
NC_000019.9:g.1399040T>G , CM000681.1:g.1399040T>G	GRCh37
NC_000019.8:g.1350040T>G	NCBI36
NG_009785.1:g.7513A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.460-15A>C MANE Select	ENSP00000252288.1:n.460-15A>C
ENST00000447102.8:c.460-15A>C	ENSP00000403536.2:n.460-15A>C
ENST00000591788.3:c.143-15A>C
ENST00000640164.1:n.293-15A>C
ENST00000640762.1:c.391-15A>C	ENSP00000492031.1:n.391-15A>C
ENST00000252288.6:c.460-15A>C	ENSP00000252288.1:n.460-15A>C
ENST00000447102.7:c.460-15A>C	ENSP00000403536.2:n.460-15A>C
ENST00000591788.2:c.145-15A>C	ENSP00000466341.2:n.145-15A>C
NM_000156.5:c.460-15A>C	NP_000147.1:n.460-15A>C
NM_138924.2:c.460-15A>C	NP_620279.1:n.460-15A>C
NM_000156.6:c.460-15A>C MANE Select	NP_000147.1:n.460-15A>C
NM_138924.3:c.460-15A>C	NP_620279.1:n.460-15A>C