Canonical Allele Identifier: CA304066277

Gene: GAMT

Linked Data

• dbSNP Id: rs529219325
• gnomAD v2: 19-1399450-C-A
• gnomAD v3: 19-1399451-C-A
• gnomAD v4: 19-1399451-C-A
• MyVariant Identifiers: chr19:g.1399450C>A (hg19) ; chr19:g.1399451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399451C>A , CM000681.2:g.1399451C>A	GRCh38
NC_000019.9:g.1399450C>A , CM000681.1:g.1399450C>A	GRCh37
NC_000019.8:g.1350450C>A	NCBI36
NG_009785.1:g.7103G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.391+73G>T MANE Select	ENSP00000252288.1:n.391+73G>T
ENST00000447102.8:c.391+73G>T	ENSP00000403536.2:n.391+73G>T
ENST00000591788.3:c.74+73G>T
ENST00000640164.1:n.224+73G>T
ENST00000640762.1:c.322+73G>T	ENSP00000492031.1:n.322+73G>T
ENST00000252288.6:c.391+73G>T	ENSP00000252288.1:n.391+73G>T
ENST00000447102.7:c.391+73G>T	ENSP00000403536.2:n.391+73G>T
ENST00000591788.2:c.76+73G>T	ENSP00000466341.2:n.76+73G>T
NM_000156.5:c.391+73G>T	NP_000147.1:n.391+73G>T
NM_138924.2:c.391+73G>T	NP_620279.1:n.391+73G>T
NM_000156.6:c.391+73G>T MANE Select	NP_000147.1:n.391+73G>T
NM_138924.3:c.391+73G>T	NP_620279.1:n.391+73G>T