Canonical Allele Identifier: CA2579371056

Gene: GALT

Linked Data

• gnomAD v4: 9-34646942-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646942C>T , CM000671.2:g.34646942C>T	GRCh38
NC_000009.11:g.34646939C>T , CM000671.1:g.34646939C>T	GRCh37
NC_000009.10:g.34636939C>T	NCBI36
NG_009029.1:g.5305C>T
NG_009029.2:g.5354C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.83-147C>T	ENSP00000509954.1:n.83-147C>T
ENST00000378842.8:c.83-147C>T MANE Select	ENSP00000368119.4:n.83-147C>T
ENST00000378842.7:c.83-147C>T	ENSP00000368119.3:n.83-147C>T
ENST00000450095.6:c.-120-147C>T	ENSP00000401956.2:n.-120-147C>T
ENST00000465543.6:n.275C>T
ENST00000468099.2:n.154+156C>T
ENST00000472111.5:n.124-147C>T
ENST00000473506.6:c.83-147C>T	ENSP00000432839.2:n.83-147C>T
ENST00000473529.5:n.130-147C>T
ENST00000485531.1:n.75+23C>T
ENST00000487381.5:n.109-147C>T
ENST00000489643.6:n.113-147C>T
ENST00000554085.5:c.83-147C>T	ENSP00000450419.1:n.83-147C>T
ENST00000554139.5:n.136-147C>T
ENST00000554330.5:n.79+75C>T
ENST00000554550.5:c.83-147C>T	ENSP00000451435.1:n.83-147C>T
ENST00000554638.5:n.107-147C>T
ENST00000554897.5:c.83-147C>T	ENSP00000450942.1:n.83-147C>T
ENST00000554944.5:n.113-147C>T
ENST00000555020.5:n.113-147C>T
ENST00000555086.5:n.86+75C>T
ENST00000555214.5:n.92-147C>T
ENST00000556157.1:n.43C>T
ENST00000556278.1:c.83-147C>T	ENSP00000451792.1:n.83-147C>T
ENST00000556403.5:n.95+75C>T
ENST00000556494.5:n.114+23C>T
ENST00000557541.5:n.275+23C>T
ENST00000557706.5:n.50C>T
ENST00000605275.1:n.474C>T
NM_000155.3:c.83-147C>T	NP_000146.2:n.83-147C>T
NM_001258332.1:c.-120-147C>T	NP_001245261.1:n.-120-147C>T
NM_000155.4:c.83-147C>T MANE Select	NP_000146.2:n.83-147C>T
NM_001258332.2:c.-120-147C>T	NP_001245261.1:n.-120-147C>T