Canonical Allele Identifier: CA2689808650

Gene: GALT

Linked Data

• gnomAD v4: 9-34647785-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647785C>T , CM000671.2:g.34647785C>T	GRCh38
NC_000009.11:g.34647782C>T , CM000671.1:g.34647782C>T	GRCh37
NC_000009.10:g.34637782C>T	NCBI36
NG_009029.1:g.6148C>T
NG_028966.1:g.601C>T
NG_009029.2:g.6197C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-47C>T	ENSP00000509954.1:n.329-47C>T
ENST00000378842.8:c.378-47C>T MANE Select	ENSP00000368119.4:n.378-47C>T
ENST00000378842.7:c.378-47C>T	ENSP00000368119.3:n.378-47C>T
ENST00000450095.6:c.51-47C>T	ENSP00000401956.2:n.51-47C>T
ENST00000465543.6:n.717-47C>T
ENST00000472111.5:n.587C>T
ENST00000473506.6:c.329-47C>T	ENSP00000432839.2:n.329-47C>T
ENST00000473529.5:n.514-47C>T
ENST00000485531.1:n.772C>T
ENST00000487381.5:n.716C>T
ENST00000489643.6:n.283-330C>T
ENST00000554085.5:c.*122-47C>T	ENSP00000450419.1:n.*122-47C>T
ENST00000554139.5:n.510C>T
ENST00000554330.5:n.494C>T
ENST00000554550.5:c.253-47C>T	ENSP00000451435.1:n.253-47C>T
ENST00000554638.5:n.803C>T
ENST00000554897.5:c.253-47C>T	ENSP00000450942.1:n.253-47C>T
ENST00000554944.5:n.527C>T
ENST00000555020.5:n.487C>T
ENST00000555086.5:n.382-47C>T
ENST00000555214.5:n.262-263C>T
ENST00000556244.1:c.365-47C>T
ENST00000556278.1:c.253-330C>T	ENSP00000451792.1:n.253-330C>T
ENST00000556403.5:n.559C>T
ENST00000556494.5:n.499-47C>T
ENST00000557541.5:n.522-47C>T
ENST00000557706.5:n.893C>T
NM_000155.3:c.378-47C>T	NP_000146.2:n.378-47C>T
NM_001258332.1:c.51-47C>T	NP_001245261.1:n.51-47C>T
NM_000155.4:c.378-47C>T MANE Select	NP_000146.2:n.378-47C>T
NM_001258332.2:c.51-47C>T	NP_001245261.1:n.51-47C>T