Canonical Allele Identifier: CA5036120

Gene: GALT

Linked Data

• ClinVar Variation Id: 281069
• ClinVar RCV Id: RCV000347809 ; RCV000634558 ; RCV001833305
• dbSNP Id: rs141232328
• ExAC: 9:34647856 G / A
• gnomAD v3: 9-34647859-G-A
• gnomAD v4: 9-34647859-G-A
• COSMIC: COSM3657056
• MyVariant Identifiers: chr9:g.34647856G>A (hg19) ; chr9:g.34647859G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.356G>A	ENSP00000509954.1:p.Arg119Gln
ENST00000378842.8:c.405G>A MANE Select	ENSP00000368119.4:p.Ser135=
ENST00000378842.7:c.405G>A	ENSP00000368119.3:p.Ser135=
ENST00000450095.6:c.78G>A	ENSP00000401956.2:p.Ser26=
ENST00000465543.6:n.744G>A
ENST00000472111.5:n.661G>A
ENST00000473506.6:c.356G>A	ENSP00000432839.2:p.Arg119Gln
ENST00000473529.5:n.541G>A
ENST00000485531.1:n.846G>A
ENST00000487381.5:n.790G>A
ENST00000489643.6:n.283-256G>A
ENST00000554085.5:c.*149G>A	ENSP00000450419.1:n.*149G>A
ENST00000554139.5:n.584G>A
ENST00000554550.5:c.*25G>A	ENSP00000451435.1:n.*25G>A
ENST00000554638.5:n.877G>A
ENST00000554897.5:c.*25G>A	ENSP00000450942.1:n.*25G>A
ENST00000554944.5:n.601G>A
ENST00000555020.5:n.561G>A
ENST00000555086.5:n.409G>A
ENST00000555214.5:n.262-189G>A
ENST00000556244.1:c.392G>A
ENST00000556278.1:c.253-256G>A	ENSP00000451792.1:n.253-256G>A
ENST00000556494.5:n.526G>A
ENST00000557541.5:n.549G>A
ENST00000557706.5:n.967G>A
NM_000155.3:c.405G>A	NP_000146.2:p.Ser135=
NM_001258332.1:c.78G>A	NP_001245261.1:p.Ser26=
NM_000155.4:c.405G>A MANE Select	NP_000146.2:p.Ser135=
NM_001258332.2:c.78G>A	NP_001245261.1:p.Ser26=