Canonical Allele Identifier: CA5036155

Gene: GALT

Linked Data

• ClinVar Variation Id: 284981
• ClinVar RCV Id: RCV001503388
• dbSNP Id: rs760189807
• ExAC: 9:34648175 G / A
• gnomAD v2: 9-34648175-G-A
• gnomAD v4: 9-34648178-G-A
• MyVariant Identifiers: chr9:g.34648175G>A (hg19) ; chr9:g.34648178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648178G>A , CM000671.2:g.34648178G>A	GRCh38
NC_000009.11:g.34648175G>A , CM000671.1:g.34648175G>A	GRCh37
NC_000009.10:g.34638175G>A	NCBI36
NG_009029.1:g.6541G>A
NG_028966.1:g.994G>A
NG_009029.2:g.6590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*152+7G>A	ENSP00000509954.1:n.*152+7G>A
ENST00000378842.8:c.564+7G>A MANE Select	ENSP00000368119.4:n.564+7G>A
ENST00000378842.7:c.564+7G>A	ENSP00000368119.3:n.564+7G>A
ENST00000450095.6:c.237+7G>A	ENSP00000401956.2:n.237+7G>A
ENST00000472111.5:n.820+7G>A
ENST00000473506.6:c.*152+7G>A	ENSP00000432839.2:n.*152+7G>A
ENST00000473529.5:n.723+7G>A
ENST00000485531.1:n.1158+7G>A
ENST00000487381.5:n.949+7G>A
ENST00000489643.6:n.339+7G>A
ENST00000554085.5:c.*308+7G>A	ENSP00000450419.1:n.*308+7G>A
ENST00000554139.5:n.810+7G>A
ENST00000554550.5:c.*184+7G>A	ENSP00000451435.1:n.*184+7G>A
ENST00000554638.5:n.1036+7G>A
ENST00000554897.5:c.*251+7G>A	ENSP00000450942.1:n.*251+7G>A
ENST00000554944.5:n.913+7G>A
ENST00000555020.5:n.720+7G>A
ENST00000555086.5:n.568+7G>A
ENST00000555214.5:n.385+7G>A
ENST00000556244.1:c.551+7G>A
ENST00000556278.1:c.309+7G>A	ENSP00000451792.1:n.309+7G>A
ENST00000556494.5:n.685+7G>A
ENST00000557706.5:n.1126+7G>A
NM_000155.3:c.564+7G>A	NP_000146.2:n.564+7G>A
NM_001258332.1:c.237+7G>A	NP_001245261.1:n.237+7G>A
NM_000155.4:c.564+7G>A MANE Select	NP_000146.2:n.564+7G>A
NM_001258332.2:c.237+7G>A	NP_001245261.1:n.237+7G>A