Canonical Allele Identifier: CA464595701

Gene: GALT

Linked Data

• dbSNP Id: rs1248561539
• gnomAD v2: 9-34647536-A-T
• gnomAD v4: 9-34647539-A-T
• MyVariant Identifiers: chr9:g.34647536A>T (hg19) ; chr9:g.34647539A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647539A>T , CM000671.2:g.34647539A>T	GRCh38
NC_000009.11:g.34647536A>T , CM000671.1:g.34647536A>T	GRCh37
NC_000009.10:g.34637536A>T	NCBI36
NG_009029.1:g.5902A>T
NG_028966.1:g.355A>T
NG_009029.2:g.5951A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.300A>T	ENSP00000509954.1:p.Pro100=
ENST00000378842.8:c.300A>T MANE Select	ENSP00000368119.4:p.Pro100=
ENST00000378842.7:c.300A>T	ENSP00000368119.3:p.Pro100=
ENST00000450095.6:c.50+281A>T	ENSP00000401956.2:n.50+281A>T
ENST00000465543.6:n.639A>T
ENST00000472111.5:n.341A>T
ENST00000473506.6:c.253-2A>T	ENSP00000432839.2:n.253-2A>T
ENST00000473529.5:n.347A>T
ENST00000485531.1:n.526A>T
ENST00000487381.5:n.559A>T
ENST00000489643.6:n.282+281A>T
ENST00000554085.5:c.*44A>T	ENSP00000450419.1:n.*44A>T
ENST00000554139.5:n.353A>T
ENST00000554330.5:n.250-2A>T
ENST00000554550.5:c.252+281A>T	ENSP00000451435.1:n.252+281A>T
ENST00000554638.5:n.557A>T
ENST00000554897.5:c.252+281A>T	ENSP00000450942.1:n.252+281A>T
ENST00000554944.5:n.283-2A>T
ENST00000555020.5:n.330A>T
ENST00000555086.5:n.304A>T
ENST00000555214.5:n.261+281A>T
ENST00000556157.1:n.424A>T
ENST00000556244.1:c.287A>T
ENST00000556278.1:c.252+281A>T	ENSP00000451792.1:n.252+281A>T
ENST00000556403.5:n.313A>T
ENST00000556494.5:n.332A>T
ENST00000557541.5:n.446-2A>T
ENST00000557706.5:n.647A>T
NM_000155.3:c.300A>T	NP_000146.2:p.Pro100=
NM_001258332.1:c.50+281A>T	NP_001245261.1:n.50+281A>T
NM_000155.4:c.300A>T MANE Select	NP_000146.2:p.Pro100=
NM_001258332.2:c.50+281A>T	NP_001245261.1:n.50+281A>T