Canonical Allele Identifier: CA5036093

Gene: GALT

Linked Data

• dbSNP Id: rs752343674
• ExAC: 9:34647660 G / A
• gnomAD v2: 9-34647660-G-A
• gnomAD v4: 9-34647663-G-A
• MyVariant Identifiers: chr9:g.34647660G>A (hg19) ; chr9:g.34647663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647663G>A , CM000671.2:g.34647663G>A	GRCh38
NC_000009.11:g.34647660G>A , CM000671.1:g.34647660G>A	GRCh37
NC_000009.10:g.34637660G>A	NCBI36
NG_009029.1:g.6026G>A
NG_028966.1:g.479G>A
NG_009029.2:g.6075G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+96G>A	ENSP00000509954.1:n.328+96G>A
ENST00000378842.8:c.335G>A MANE Select	ENSP00000368119.4:p.Ser112Asn
ENST00000378842.7:c.335G>A	ENSP00000368119.3:p.Ser112Asn
ENST00000450095.6:c.51-169G>A	ENSP00000401956.2:n.51-169G>A
ENST00000465543.6:n.674G>A
ENST00000472111.5:n.465G>A
ENST00000473506.6:c.286G>A	ENSP00000432839.2:p.Val96Met
ENST00000473529.5:n.471G>A
ENST00000485531.1:n.650G>A
ENST00000487381.5:n.594G>A
ENST00000489643.6:n.282+405G>A
ENST00000554085.5:c.*79G>A	ENSP00000450419.1:n.*79G>A
ENST00000554139.5:n.388G>A
ENST00000554330.5:n.372G>A
ENST00000554550.5:c.253-169G>A	ENSP00000451435.1:n.253-169G>A
ENST00000554638.5:n.681G>A
ENST00000554897.5:c.253-169G>A	ENSP00000450942.1:n.253-169G>A
ENST00000554944.5:n.405G>A
ENST00000555020.5:n.365G>A
ENST00000555086.5:n.339G>A
ENST00000555214.5:n.262-385G>A
ENST00000556157.1:n.459G>A
ENST00000556244.1:c.322G>A
ENST00000556278.1:c.252+405G>A	ENSP00000451792.1:n.252+405G>A
ENST00000556403.5:n.437G>A
ENST00000556494.5:n.456G>A
ENST00000557541.5:n.479G>A
ENST00000557706.5:n.771G>A
NM_000155.3:c.335G>A	NP_000146.2:p.Ser112Asn
NM_001258332.1:c.51-169G>A	NP_001245261.1:n.51-169G>A
NM_000155.4:c.335G>A MANE Select	NP_000146.2:p.Ser112Asn
NM_001258332.2:c.51-169G>A	NP_001245261.1:n.51-169G>A