Canonical Allele Identifier: CA2739265813

Gene: GALT

Linked Data

• ClinVar Variation Id: 2902346
• ClinVar RCV Id: RCV003609645

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648097C>G , CM000671.2:g.34648097C>G	GRCh38
NC_000009.11:g.34648094C>G , CM000671.1:g.34648094C>G	GRCh37
NC_000009.10:g.34638094C>G	NCBI36
NG_009029.1:g.6460C>G
NG_028966.1:g.913C>G
NG_009029.2:g.6509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*96-18C>G	ENSP00000509954.1:n.*96-18C>G
ENST00000378842.8:c.508-18C>G MANE Select	ENSP00000368119.4:n.508-18C>G
ENST00000378842.7:c.508-18C>G	ENSP00000368119.3:n.508-18C>G
ENST00000450095.6:c.181-18C>G	ENSP00000401956.2:n.181-18C>G
ENST00000465543.6:n.847-18C>G
ENST00000472111.5:n.764-18C>G
ENST00000473506.6:c.*96-18C>G	ENSP00000432839.2:n.*96-18C>G
ENST00000473529.5:n.649C>G
ENST00000485531.1:n.1084C>G
ENST00000487381.5:n.893-18C>G
ENST00000489643.6:n.283-18C>G
ENST00000554085.5:c.*252-18C>G	ENSP00000450419.1:n.*252-18C>G
ENST00000554139.5:n.736C>G
ENST00000554550.5:c.*128-18C>G	ENSP00000451435.1:n.*128-18C>G
ENST00000554638.5:n.980-18C>G
ENST00000554897.5:c.*177C>G	ENSP00000450942.1:n.*177C>G
ENST00000554944.5:n.839C>G
ENST00000555020.5:n.664-18C>G
ENST00000555086.5:n.512-18C>G
ENST00000555214.5:n.311C>G
ENST00000556244.1:c.495-18C>G
ENST00000556278.1:c.253-18C>G	ENSP00000451792.1:n.253-18C>G
ENST00000556494.5:n.629-18C>G
ENST00000557706.5:n.1070-18C>G
NM_000155.3:c.508-18C>G	NP_000146.2:n.508-18C>G
NM_001258332.1:c.181-18C>G	NP_001245261.1:n.181-18C>G
NM_000155.4:c.508-18C>G MANE Select	NP_000146.2:n.508-18C>G
NM_001258332.2:c.181-18C>G	NP_001245261.1:n.181-18C>G