Canonical Allele Identifier: CA631044746

Gene: GAMT

Linked Data

• dbSNP Id: rs1159169641
• gnomAD v2: 19-1399388-G-A
• gnomAD v3: 19-1399389-G-A
• gnomAD v4: 19-1399389-G-A
• MyVariant Identifiers: chr19:g.1399388G>A (hg19) ; chr19:g.1399389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399389G>A , CM000681.2:g.1399389G>A	GRCh38
NC_000019.9:g.1399388G>A , CM000681.1:g.1399388G>A	GRCh37
NC_000019.8:g.1350388G>A	NCBI36
NG_009785.1:g.7165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.391+135C>T MANE Select	ENSP00000252288.1:n.391+135C>T
ENST00000447102.8:c.391+135C>T	ENSP00000403536.2:n.391+135C>T
ENST00000591788.3:c.74+135C>T
ENST00000640164.1:n.224+135C>T
ENST00000640762.1:c.322+135C>T	ENSP00000492031.1:n.322+135C>T
ENST00000252288.6:c.391+135C>T	ENSP00000252288.1:n.391+135C>T
ENST00000447102.7:c.391+135C>T	ENSP00000403536.2:n.391+135C>T
ENST00000591788.2:c.76+135C>T	ENSP00000466341.2:n.76+135C>T
NM_000156.5:c.391+135C>T	NP_000147.1:n.391+135C>T
NM_138924.2:c.391+135C>T	NP_620279.1:n.391+135C>T
NM_000156.6:c.391+135C>T MANE Select	NP_000147.1:n.391+135C>T
NM_138924.3:c.391+135C>T	NP_620279.1:n.391+135C>T