Canonical Allele Identifier: CA373279051

Gene: GALT

Linked Data

• gnomAD v4: 9-34647492-G-A
• MyVariant Identifiers: chr9:g.34647489G>A (hg19) ; chr9:g.34647492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647492G>A , CM000671.2:g.34647492G>A	GRCh38
NC_000009.11:g.34647489G>A , CM000671.1:g.34647489G>A	GRCh37
NC_000009.10:g.34637489G>A	NCBI36
NG_009029.1:g.5855G>A
NG_028966.1:g.308G>A
NG_009029.2:g.5904G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.253G>A	ENSP00000509954.1:p.Val85Met
ENST00000378842.8:c.253G>A MANE Select	ENSP00000368119.4:p.Val85Met
ENST00000378842.7:c.253G>A	ENSP00000368119.3:p.Val85Met
ENST00000450095.6:c.50+234G>A	ENSP00000401956.2:n.50+234G>A
ENST00000465543.6:n.592G>A
ENST00000468099.2:n.526G>A
ENST00000472111.5:n.294G>A
ENST00000473506.6:c.253-49G>A	ENSP00000432839.2:n.253-49G>A
ENST00000473529.5:n.300G>A
ENST00000485531.1:n.479G>A
ENST00000487381.5:n.512G>A
ENST00000489643.6:n.282+234G>A
ENST00000554085.5:c.270G>A	ENSP00000450419.1:p.Arg90=
ENST00000554139.5:n.306G>A
ENST00000554330.5:n.250-49G>A
ENST00000554550.5:c.252+234G>A	ENSP00000451435.1:n.252+234G>A
ENST00000554638.5:n.510G>A
ENST00000554897.5:c.252+234G>A	ENSP00000450942.1:n.252+234G>A
ENST00000554944.5:n.283-49G>A
ENST00000555020.5:n.283G>A
ENST00000555086.5:n.257G>A
ENST00000555214.5:n.261+234G>A
ENST00000556157.1:n.377G>A
ENST00000556244.1:c.240G>A
ENST00000556278.1:c.252+234G>A	ENSP00000451792.1:n.252+234G>A
ENST00000556403.5:n.266G>A
ENST00000556494.5:n.285G>A
ENST00000557541.5:n.446-49G>A
ENST00000557706.5:n.600G>A
NM_000155.3:c.253G>A	NP_000146.2:p.Val85Met
NM_001258332.1:c.50+234G>A	NP_001245261.1:n.50+234G>A
NM_000155.4:c.253G>A MANE Select	NP_000146.2:p.Val85Met
NM_001258332.2:c.50+234G>A	NP_001245261.1:n.50+234G>A