Canonical Allele Identifier: CA2582641996

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401542-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401542T>C , CM000681.2:g.1401542T>C	GRCh38
NC_000019.9:g.1401541T>C , CM000681.1:g.1401541T>C	GRCh37
NC_000019.8:g.1352541T>C	NCBI36
NG_009785.1:g.5012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-66A>G MANE Select	ENSP00000252288.1:n.-66A>G
ENST00000447102.8:c.-66A>G	ENSP00000403536.2:n.-66A>G
ENST00000252288.6:c.-66A>G	ENSP00000252288.1:n.-66A>G
ENST00000447102.7:c.-66A>G	ENSP00000403536.2:n.-66A>G
NM_000156.5:c.-66A>G	NP_000147.1:n.-66A>G
NM_138924.2:c.-66A>G	NP_620279.1:n.-66A>G
NM_000156.6:c.-66A>G MANE Select	NP_000147.1:n.-66A>G
NM_138924.3:c.-66A>G	NP_620279.1:n.-66A>G