Canonical Allele Identifier: CA464595881

Gene: GALT

Linked Data

• ClinVar Variation Id: 2726832
• ClinVar RCV Id: RCV003504287
• dbSNP Id: rs141232328
• gnomAD v3: 9-34647859-G-C
• gnomAD v4: 9-34647859-G-C
• MyVariant Identifiers: chr9:g.34647856G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647859G>C , CM000671.2:g.34647859G>C	GRCh38
NC_000009.11:g.34647856G>C , CM000671.1:g.34647856G>C	GRCh37
NC_000009.10:g.34637856G>C	NCBI36
NG_009029.1:g.6222G>C
NG_028966.1:g.675G>C
NG_009029.2:g.6271G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.356G>C	ENSP00000509954.1:p.Arg119Pro
ENST00000378842.8:c.405G>C MANE Select	ENSP00000368119.4:p.Ser135=
ENST00000378842.7:c.405G>C	ENSP00000368119.3:p.Ser135=
ENST00000450095.6:c.78G>C	ENSP00000401956.2:p.Ser26=
ENST00000465543.6:n.744G>C
ENST00000472111.5:n.661G>C
ENST00000473506.6:c.356G>C	ENSP00000432839.2:p.Arg119Pro
ENST00000473529.5:n.541G>C
ENST00000485531.1:n.846G>C
ENST00000487381.5:n.790G>C
ENST00000489643.6:n.283-256G>C
ENST00000554085.5:c.*149G>C	ENSP00000450419.1:n.*149G>C
ENST00000554139.5:n.584G>C
ENST00000554550.5:c.*25G>C	ENSP00000451435.1:n.*25G>C
ENST00000554638.5:n.877G>C
ENST00000554897.5:c.*25G>C	ENSP00000450942.1:n.*25G>C
ENST00000554944.5:n.601G>C
ENST00000555020.5:n.561G>C
ENST00000555086.5:n.409G>C
ENST00000555214.5:n.262-189G>C
ENST00000556244.1:c.392G>C
ENST00000556278.1:c.253-256G>C	ENSP00000451792.1:n.253-256G>C
ENST00000556494.5:n.526G>C
ENST00000557541.5:n.549G>C
ENST00000557706.5:n.967G>C
NM_000155.3:c.405G>C	NP_000146.2:p.Ser135=
NM_001258332.1:c.78G>C	NP_001245261.1:p.Ser26=
NM_000155.4:c.405G>C MANE Select	NP_000146.2:p.Ser135=
NM_001258332.2:c.78G>C	NP_001245261.1:p.Ser26=