Canonical Allele Identifier: CA464595734

Gene: GALT

Linked Data

• ClinVar Variation Id: 2995386
• ClinVar RCV Id: RCV003850993
• MyVariant Identifiers: chr9:g.34647554C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647557C>T , CM000671.2:g.34647557C>T	GRCh38
NC_000009.11:g.34647554C>T , CM000671.1:g.34647554C>T	GRCh37
NC_000009.10:g.34637554C>T	NCBI36
NG_009029.1:g.5920C>T
NG_028966.1:g.373C>T
NG_009029.2:g.5969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.318C>T	ENSP00000509954.1:p.Ala106=
ENST00000378842.8:c.318C>T MANE Select	ENSP00000368119.4:p.Ala106=
ENST00000378842.7:c.318C>T	ENSP00000368119.3:p.Ala106=
ENST00000450095.6:c.51-275C>T	ENSP00000401956.2:n.51-275C>T
ENST00000465543.6:n.657C>T
ENST00000472111.5:n.359C>T
ENST00000473506.6:c.269C>T	ENSP00000432839.2:p.Pro90Leu
ENST00000473529.5:n.365C>T
ENST00000485531.1:n.544C>T
ENST00000487381.5:n.577C>T
ENST00000489643.6:n.282+299C>T
ENST00000554085.5:c.*62C>T	ENSP00000450419.1:n.*62C>T
ENST00000554139.5:n.371C>T
ENST00000554330.5:n.266C>T
ENST00000554550.5:c.253-275C>T	ENSP00000451435.1:n.253-275C>T
ENST00000554638.5:n.575C>T
ENST00000554897.5:c.253-275C>T	ENSP00000450942.1:n.253-275C>T
ENST00000554944.5:n.299C>T
ENST00000555020.5:n.348C>T
ENST00000555086.5:n.322C>T
ENST00000555214.5:n.261+299C>T
ENST00000556157.1:n.442C>T
ENST00000556244.1:c.305C>T
ENST00000556278.1:c.252+299C>T	ENSP00000451792.1:n.252+299C>T
ENST00000556403.5:n.331C>T
ENST00000556494.5:n.350C>T
ENST00000557541.5:n.462C>T
ENST00000557706.5:n.665C>T
NM_000155.3:c.318C>T	NP_000146.2:p.Ala106=
NM_001258332.1:c.51-275C>T	NP_001245261.1:n.51-275C>T
NM_000155.4:c.318C>T MANE Select	NP_000146.2:p.Ala106=
NM_001258332.2:c.51-275C>T	NP_001245261.1:n.51-275C>T