Canonical Allele Identifier: CA587568178

Gene: GALT

Linked Data

• dbSNP Id: rs1255453412
• gnomAD v2: 9-34647366-C-A
• gnomAD v4: 9-34647369-C-A
• MyVariant Identifiers: chr9:g.34647366C>A (hg19) ; chr9:g.34647369C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647369C>A , CM000671.2:g.34647369C>A	GRCh38
NC_000009.11:g.34647366C>A , CM000671.1:g.34647366C>A	GRCh37
NC_000009.10:g.34637366C>A	NCBI36
NG_009029.1:g.5732C>A
NG_028966.1:g.185C>A
NG_009029.2:g.5781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+111C>A	ENSP00000509954.1:n.252+111C>A
ENST00000378842.8:c.252+111C>A MANE Select	ENSP00000368119.4:n.252+111C>A
ENST00000378842.7:c.252+111C>A	ENSP00000368119.3:n.252+111C>A
ENST00000450095.6:c.50+111C>A	ENSP00000401956.2:n.50+111C>A
ENST00000465543.6:n.591+111C>A
ENST00000468099.2:n.403C>A
ENST00000472111.5:n.293+111C>A
ENST00000473506.6:c.252+111C>A	ENSP00000432839.2:n.252+111C>A
ENST00000473529.5:n.299+111C>A
ENST00000485531.1:n.356C>A
ENST00000487381.5:n.389C>A
ENST00000489643.6:n.282+111C>A
ENST00000554085.5:c.253-106C>A	ENSP00000450419.1:n.253-106C>A
ENST00000554139.5:n.305+111C>A
ENST00000554330.5:n.249+111C>A
ENST00000554550.5:c.252+111C>A	ENSP00000451435.1:n.252+111C>A
ENST00000554638.5:n.387C>A
ENST00000554897.5:c.252+111C>A	ENSP00000450942.1:n.252+111C>A
ENST00000554944.5:n.282+111C>A
ENST00000555020.5:n.282+111C>A
ENST00000555086.5:n.256+111C>A
ENST00000555214.5:n.261+111C>A
ENST00000556157.1:n.360-106C>A
ENST00000556244.1:c.137-20C>A
ENST00000556278.1:c.252+111C>A	ENSP00000451792.1:n.252+111C>A
ENST00000556403.5:n.265+111C>A
ENST00000556494.5:n.284+111C>A
ENST00000557541.5:n.445+111C>A
ENST00000557706.5:n.477C>A
NM_000155.3:c.252+111C>A	NP_000146.2:n.252+111C>A
NM_001258332.1:c.50+111C>A	NP_001245261.1:n.50+111C>A
NM_000155.4:c.252+111C>A MANE Select	NP_000146.2:n.252+111C>A
NM_001258332.2:c.50+111C>A	NP_001245261.1:n.50+111C>A