Canonical Allele Identifier: CA2573144585

Gene: GALT

Linked Data

• ClinVar Variation Id: 1591044
• ClinVar RCV Id: RCV002119791
• dbSNP Id: rs2132342533
• gnomAD v4: 9-34647575-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647575G>A , CM000671.2:g.34647575G>A	GRCh38
NC_000009.11:g.34647572G>A , CM000671.1:g.34647572G>A	GRCh37
NC_000009.10:g.34637572G>A	NCBI36
NG_009029.1:g.5938G>A
NG_028966.1:g.391G>A
NG_009029.2:g.5987G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+8G>A	ENSP00000509954.1:n.328+8G>A
ENST00000378842.8:c.328+8G>A MANE Select	ENSP00000368119.4:n.328+8G>A
ENST00000378842.7:c.328+8G>A	ENSP00000368119.3:n.328+8G>A
ENST00000450095.6:c.51-257G>A	ENSP00000401956.2:n.51-257G>A
ENST00000465543.6:n.667+8G>A
ENST00000472111.5:n.377G>A
ENST00000473506.6:c.279+8G>A	ENSP00000432839.2:n.279+8G>A
ENST00000473529.5:n.383G>A
ENST00000485531.1:n.562G>A
ENST00000487381.5:n.587+8G>A
ENST00000489643.6:n.282+317G>A
ENST00000554085.5:c.*72+8G>A	ENSP00000450419.1:n.*72+8G>A
ENST00000554139.5:n.381+8G>A
ENST00000554330.5:n.284G>A
ENST00000554550.5:c.253-257G>A	ENSP00000451435.1:n.253-257G>A
ENST00000554638.5:n.593G>A
ENST00000554897.5:c.253-257G>A	ENSP00000450942.1:n.253-257G>A
ENST00000554944.5:n.317G>A
ENST00000555020.5:n.358+8G>A
ENST00000555086.5:n.332+8G>A
ENST00000555214.5:n.261+317G>A
ENST00000556157.1:n.452+8G>A
ENST00000556244.1:c.315+8G>A
ENST00000556278.1:c.252+317G>A	ENSP00000451792.1:n.252+317G>A
ENST00000556403.5:n.349G>A
ENST00000556494.5:n.368G>A
ENST00000557541.5:n.472+8G>A
ENST00000557706.5:n.683G>A
NM_000155.3:c.328+8G>A	NP_000146.2:n.328+8G>A
NM_001258332.1:c.51-257G>A	NP_001245261.1:n.51-257G>A
NM_000155.4:c.328+8G>A MANE Select	NP_000146.2:n.328+8G>A
NM_001258332.2:c.51-257G>A	NP_001245261.1:n.51-257G>A