Canonical Allele Identifier: CA304066248

Gene: GAMT

Linked Data

• dbSNP Id: rs942393529
• gnomAD v3: 19-1399382-G-A
• gnomAD v4: 19-1399382-G-A
• MyVariant Identifiers: chr19:g.1399381G>A (hg19) ; chr19:g.1399382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399382G>A , CM000681.2:g.1399382G>A	GRCh38
NC_000019.9:g.1399381G>A , CM000681.1:g.1399381G>A	GRCh37
NC_000019.8:g.1350381G>A	NCBI36
NG_009785.1:g.7172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.391+142C>T MANE Select	ENSP00000252288.1:n.391+142C>T
ENST00000447102.8:c.391+142C>T	ENSP00000403536.2:n.391+142C>T
ENST00000591788.3:c.74+142C>T
ENST00000640164.1:n.224+142C>T
ENST00000640762.1:c.322+142C>T	ENSP00000492031.1:n.322+142C>T
ENST00000252288.6:c.391+142C>T	ENSP00000252288.1:n.391+142C>T
ENST00000447102.7:c.391+142C>T	ENSP00000403536.2:n.391+142C>T
ENST00000591788.2:c.76+142C>T	ENSP00000466341.2:n.76+142C>T
NM_000156.5:c.391+142C>T	NP_000147.1:n.391+142C>T
NM_138924.2:c.391+142C>T	NP_620279.1:n.391+142C>T
NM_000156.6:c.391+142C>T MANE Select	NP_000147.1:n.391+142C>T
NM_138924.3:c.391+142C>T	NP_620279.1:n.391+142C>T