Canonical Allele Identifier: CA373283666

Gene: GALT

Linked Data

• ClinVar Variation Id: 983985
• ClinVar RCV Id: RCV001263990
• dbSNP Id: rs1821176206
• MyVariant Identifiers: chr9:g.34648808G>A (hg19) ; chr9:g.34648811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648811G>A , CM000671.2:g.34648811G>A	GRCh38
NC_000009.11:g.34648808G>A , CM000671.1:g.34648808G>A	GRCh37
NC_000009.10:g.34638808G>A	NCBI36
NG_009029.1:g.7174G>A
NG_028966.1:g.1627G>A
NG_009029.2:g.7223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*325G>A	ENSP00000509954.1:n.*325G>A
ENST00000378842.8:c.737G>A MANE Select	ENSP00000368119.4:p.Trp246Ter
ENST00000378842.7:c.737G>A	ENSP00000368119.3:p.Trp246Ter
ENST00000450095.6:c.410G>A	ENSP00000401956.2:p.Trp137Ter
ENST00000473506.6:c.*325G>A	ENSP00000432839.2:n.*325G>A
ENST00000473529.5:n.896G>A
ENST00000487381.5:n.1427G>A
ENST00000489643.6:n.817G>A
ENST00000554085.5:c.*481G>A	ENSP00000450419.1:n.*481G>A
ENST00000554550.5:c.*357G>A	ENSP00000451435.1:n.*357G>A
ENST00000554638.5:n.1209G>A
ENST00000555020.5:n.1198G>A
ENST00000555086.5:n.741G>A
ENST00000555754.1:n.82G>A
ENST00000556244.1:c.724G>A
ENST00000556278.1:c.432+355G>A	ENSP00000451792.1:n.432+355G>A
ENST00000557706.5:n.1299G>A
NM_000155.3:c.737G>A	NP_000146.2:p.Trp246Ter
NM_001258332.1:c.410G>A	NP_001245261.1:p.Trp137Ter
NM_000155.4:c.737G>A MANE Select	NP_000146.2:p.Trp246Ter
NM_001258332.2:c.410G>A	NP_001245261.1:p.Trp137Ter