Canonical Allele Identifier: CA5036087

Gene: GALT

Linked Data

• dbSNP Id: rs750391010
• ExAC: 9:34647615 G / T
• gnomAD v2: 9-34647615-G-T
• gnomAD v4: 9-34647618-G-T
• MyVariant Identifiers: chr9:g.34647615G>T (hg19) ; chr9:g.34647618G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647618G>T , CM000671.2:g.34647618G>T	GRCh38
NC_000009.11:g.34647615G>T , CM000671.1:g.34647615G>T	GRCh37
NC_000009.10:g.34637615G>T	NCBI36
NG_009029.1:g.5981G>T
NG_028966.1:g.434G>T
NG_009029.2:g.6030G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+51G>T	ENSP00000509954.1:n.328+51G>T
ENST00000378842.8:c.329-39G>T MANE Select	ENSP00000368119.4:n.329-39G>T
ENST00000378842.7:c.329-39G>T	ENSP00000368119.3:n.329-39G>T
ENST00000450095.6:c.51-214G>T	ENSP00000401956.2:n.51-214G>T
ENST00000465543.6:n.668-39G>T
ENST00000472111.5:n.420G>T
ENST00000473506.6:c.280-39G>T	ENSP00000432839.2:n.280-39G>T
ENST00000473529.5:n.426G>T
ENST00000485531.1:n.605G>T
ENST00000487381.5:n.588-39G>T
ENST00000489643.6:n.282+360G>T
ENST00000554085.5:c.*73-39G>T	ENSP00000450419.1:n.*73-39G>T
ENST00000554139.5:n.382-39G>T
ENST00000554330.5:n.327G>T
ENST00000554550.5:c.253-214G>T	ENSP00000451435.1:n.253-214G>T
ENST00000554638.5:n.636G>T
ENST00000554897.5:c.253-214G>T	ENSP00000450942.1:n.253-214G>T
ENST00000554944.5:n.360G>T
ENST00000555020.5:n.359-39G>T
ENST00000555086.5:n.333-39G>T
ENST00000555214.5:n.261+360G>T
ENST00000556157.1:n.453-39G>T
ENST00000556244.1:c.316-39G>T
ENST00000556278.1:c.252+360G>T	ENSP00000451792.1:n.252+360G>T
ENST00000556403.5:n.392G>T
ENST00000556494.5:n.411G>T
ENST00000557541.5:n.473-39G>T
ENST00000557706.5:n.726G>T
NM_000155.3:c.329-39G>T	NP_000146.2:n.329-39G>T
NM_001258332.1:c.51-214G>T	NP_001245261.1:n.51-214G>T
NM_000155.4:c.329-39G>T MANE Select	NP_000146.2:n.329-39G>T
NM_001258332.2:c.51-214G>T	NP_001245261.1:n.51-214G>T