Canonical Allele Identifier: CA2499219849

Gene: GALT

Linked Data

• ClinVar Variation Id: 1060008
• ClinVar RCV Id: RCV001369381
• dbSNP Id: rs753450355

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647486C>A , CM000671.2:g.34647486C>A	GRCh38
NC_000009.11:g.34647483C>A , CM000671.1:g.34647483C>A	GRCh37
NC_000009.10:g.34637483C>A	NCBI36
NG_009029.1:g.5849C>A
NG_028966.1:g.302C>A
NG_009029.2:g.5898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-6C>A	ENSP00000509954.1:n.253-6C>A
ENST00000378842.8:c.253-6C>A MANE Select	ENSP00000368119.4:n.253-6C>A
ENST00000378842.7:c.253-6C>A	ENSP00000368119.3:n.253-6C>A
ENST00000450095.6:c.50+228C>A	ENSP00000401956.2:n.50+228C>A
ENST00000465543.6:n.592-6C>A
ENST00000468099.2:n.520C>A
ENST00000472111.5:n.294-6C>A
ENST00000473506.6:c.253-55C>A	ENSP00000432839.2:n.253-55C>A
ENST00000473529.5:n.300-6C>A
ENST00000485531.1:n.473C>A
ENST00000487381.5:n.506C>A
ENST00000489643.6:n.282+228C>A
ENST00000554085.5:c.264C>A	ENSP00000450419.1:p.Val88=
ENST00000554139.5:n.306-6C>A
ENST00000554330.5:n.250-55C>A
ENST00000554550.5:c.252+228C>A	ENSP00000451435.1:n.252+228C>A
ENST00000554638.5:n.504C>A
ENST00000554897.5:c.252+228C>A	ENSP00000450942.1:n.252+228C>A
ENST00000554944.5:n.283-55C>A
ENST00000555020.5:n.283-6C>A
ENST00000555086.5:n.257-6C>A
ENST00000555214.5:n.261+228C>A
ENST00000556157.1:n.371C>A
ENST00000556244.1:c.234C>A
ENST00000556278.1:c.252+228C>A	ENSP00000451792.1:n.252+228C>A
ENST00000556403.5:n.266-6C>A
ENST00000556494.5:n.285-6C>A
ENST00000557541.5:n.446-55C>A
ENST00000557706.5:n.594C>A
NM_000155.3:c.253-6C>A	NP_000146.2:n.253-6C>A
NM_001258332.1:c.50+228C>A	NP_001245261.1:n.50+228C>A
NM_000155.4:c.253-6C>A MANE Select	NP_000146.2:n.253-6C>A
NM_001258332.2:c.50+228C>A	NP_001245261.1:n.50+228C>A