Canonical Allele Identifier: CA464404529

Gene: GALT

Linked Data

• dbSNP Id: rs1476090243
• gnomAD v2: 9-34649541-A-C
• gnomAD v3: 9-34649544-A-C
• gnomAD v4: 9-34649544-A-C
• MyVariant Identifiers: chr9:g.34649541A>C (hg19) ; chr9:g.34649544A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649544A>C , CM000671.2:g.34649544A>C	GRCh38
NC_000009.11:g.34649541A>C , CM000671.1:g.34649541A>C	GRCh37
NC_000009.10:g.34639541A>C	NCBI36
NG_009029.1:g.7907A>C
NG_028966.1:g.2360A>C
NG_009029.2:g.7956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*627A>C	ENSP00000509954.1:n.*627A>C
ENST00000378842.8:c.1039A>C MANE Select	ENSP00000368119.4:p.Arg347=
ENST00000378842.7:c.1039A>C	ENSP00000368119.3:p.Arg347=
ENST00000450095.6:c.712A>C	ENSP00000401956.2:p.Arg238=
ENST00000488412.2:n.623A>C
ENST00000489643.6:n.1447A>C
ENST00000554550.5:c.*659A>C	ENSP00000451435.1:n.*659A>C
ENST00000554638.5:n.1511A>C
ENST00000555020.5:n.1828A>C
ENST00000555754.1:n.487A>C
ENST00000556278.1:c.432+1088A>C	ENSP00000451792.1:n.432+1088A>C
ENST00000557706.5:n.1614A>C
NM_000155.3:c.1039A>C	NP_000146.2:p.Arg347=
NM_001258332.1:c.712A>C	NP_001245261.1:p.Arg238=
NM_000155.4:c.1039A>C MANE Select	NP_000146.2:p.Arg347=
NM_001258332.2:c.712A>C	NP_001245261.1:p.Arg238=