Canonical Allele Identifier: CA192669867

Gene: GALT

Linked Data

• dbSNP Id: rs115812481
• gnomAD v2: 9-34648042-C-A
• gnomAD v3: 9-34648045-C-A
• gnomAD v4: 9-34648045-C-A
• MyVariant Identifiers: chr9:g.34648042C>A (hg19) ; chr9:g.34648045C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648045C>A , CM000671.2:g.34648045C>A	GRCh38
NC_000009.11:g.34648042C>A , CM000671.1:g.34648042C>A	GRCh37
NC_000009.10:g.34638042C>A	NCBI36
NG_009029.1:g.6408C>A
NG_028966.1:g.861C>A
NG_009029.2:g.6457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*96-70C>A	ENSP00000509954.1:n.*96-70C>A
ENST00000378842.8:c.508-70C>A MANE Select	ENSP00000368119.4:n.508-70C>A
ENST00000378842.7:c.508-70C>A	ENSP00000368119.3:n.508-70C>A
ENST00000450095.6:c.181-70C>A	ENSP00000401956.2:n.181-70C>A
ENST00000465543.6:n.847-70C>A
ENST00000472111.5:n.764-70C>A
ENST00000473506.6:c.*96-70C>A	ENSP00000432839.2:n.*96-70C>A
ENST00000473529.5:n.644-47C>A
ENST00000485531.1:n.1032C>A
ENST00000487381.5:n.893-70C>A
ENST00000489643.6:n.283-70C>A
ENST00000554085.5:c.*252-70C>A	ENSP00000450419.1:n.*252-70C>A
ENST00000554139.5:n.687-3C>A
ENST00000554550.5:c.*128-70C>A	ENSP00000451435.1:n.*128-70C>A
ENST00000554638.5:n.980-70C>A
ENST00000554897.5:c.*128-3C>A	ENSP00000450942.1:n.*128-3C>A
ENST00000554944.5:n.787C>A
ENST00000555020.5:n.664-70C>A
ENST00000555086.5:n.512-70C>A
ENST00000555214.5:n.262-3C>A
ENST00000556244.1:c.495-70C>A
ENST00000556278.1:c.253-70C>A	ENSP00000451792.1:n.253-70C>A
ENST00000556494.5:n.629-70C>A
ENST00000557706.5:n.1070-70C>A
NM_000155.3:c.508-70C>A	NP_000146.2:n.508-70C>A
NM_001258332.1:c.181-70C>A	NP_001245261.1:n.181-70C>A
NM_000155.4:c.508-70C>A MANE Select	NP_000146.2:n.508-70C>A
NM_001258332.2:c.181-70C>A	NP_001245261.1:n.181-70C>A