Canonical Allele Identifier: CA587568188

Gene: GALT

Linked Data

• dbSNP Id: rs1398903511
• gnomAD v2: 9-34647472-C-A
• gnomAD v3: 9-34647475-C-A
• gnomAD v4: 9-34647475-C-A
• MyVariant Identifiers: chr9:g.34647472C>A (hg19) ; chr9:g.34647475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647475C>A , CM000671.2:g.34647475C>A	GRCh38
NC_000009.11:g.34647472C>A , CM000671.1:g.34647472C>A	GRCh37
NC_000009.10:g.34637472C>A	NCBI36
NG_009029.1:g.5838C>A
NG_028966.1:g.291C>A
NG_009029.2:g.5887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-17C>A	ENSP00000509954.1:n.253-17C>A
ENST00000378842.8:c.253-17C>A MANE Select	ENSP00000368119.4:n.253-17C>A
ENST00000378842.7:c.253-17C>A	ENSP00000368119.3:n.253-17C>A
ENST00000450095.6:c.50+217C>A	ENSP00000401956.2:n.50+217C>A
ENST00000465543.6:n.592-17C>A
ENST00000468099.2:n.509C>A
ENST00000472111.5:n.294-17C>A
ENST00000473506.6:c.253-66C>A	ENSP00000432839.2:n.253-66C>A
ENST00000473529.5:n.300-17C>A
ENST00000485531.1:n.462C>A
ENST00000487381.5:n.495C>A
ENST00000489643.6:n.282+217C>A
ENST00000554085.5:c.253C>A	ENSP00000450419.1:p.Pro85Thr
ENST00000554139.5:n.306-17C>A
ENST00000554330.5:n.250-66C>A
ENST00000554550.5:c.252+217C>A	ENSP00000451435.1:n.252+217C>A
ENST00000554638.5:n.493C>A
ENST00000554897.5:c.252+217C>A	ENSP00000450942.1:n.252+217C>A
ENST00000554944.5:n.283-66C>A
ENST00000555020.5:n.283-17C>A
ENST00000555086.5:n.257-17C>A
ENST00000555214.5:n.261+217C>A
ENST00000556157.1:n.360C>A
ENST00000556244.1:c.223C>A
ENST00000556278.1:c.252+217C>A	ENSP00000451792.1:n.252+217C>A
ENST00000556403.5:n.266-17C>A
ENST00000556494.5:n.285-17C>A
ENST00000557541.5:n.446-66C>A
ENST00000557706.5:n.583C>A
NM_000155.3:c.253-17C>A	NP_000146.2:n.253-17C>A
NM_001258332.1:c.50+217C>A	NP_001245261.1:n.50+217C>A
NM_000155.4:c.253-17C>A MANE Select	NP_000146.2:n.253-17C>A
NM_001258332.2:c.50+217C>A	NP_001245261.1:n.50+217C>A