Canonical Allele Identifier: CA373279161

Gene: GALT

Linked Data

• ClinVar Variation Id: 495674
• ClinVar RCV Id: RCV000587415
• dbSNP Id: rs1554709207
• MyVariant Identifiers: chr9:g.34647511C>A (hg19) ; chr9:g.34647514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647514C>A , CM000671.2:g.34647514C>A	GRCh38
NC_000009.11:g.34647511C>A , CM000671.1:g.34647511C>A	GRCh37
NC_000009.10:g.34637511C>A	NCBI36
NG_009029.1:g.5877C>A
NG_028966.1:g.330C>A
NG_009029.2:g.5926C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.275C>A	ENSP00000509954.1:p.Thr92Asn
ENST00000378842.8:c.275C>A MANE Select	ENSP00000368119.4:p.Thr92Asn
ENST00000378842.7:c.275C>A	ENSP00000368119.3:p.Thr92Asn
ENST00000450095.6:c.50+256C>A	ENSP00000401956.2:n.50+256C>A
ENST00000465543.6:n.614C>A
ENST00000468099.2:n.548C>A
ENST00000472111.5:n.316C>A
ENST00000473506.6:c.253-27C>A	ENSP00000432839.2:n.253-27C>A
ENST00000473529.5:n.322C>A
ENST00000485531.1:n.501C>A
ENST00000487381.5:n.534C>A
ENST00000489643.6:n.282+256C>A
ENST00000554085.5:c.*19C>A	ENSP00000450419.1:n.*19C>A
ENST00000554139.5:n.328C>A
ENST00000554330.5:n.250-27C>A
ENST00000554550.5:c.252+256C>A	ENSP00000451435.1:n.252+256C>A
ENST00000554638.5:n.532C>A
ENST00000554897.5:c.252+256C>A	ENSP00000450942.1:n.252+256C>A
ENST00000554944.5:n.283-27C>A
ENST00000555020.5:n.305C>A
ENST00000555086.5:n.279C>A
ENST00000555214.5:n.261+256C>A
ENST00000556157.1:n.399C>A
ENST00000556244.1:c.262C>A
ENST00000556278.1:c.252+256C>A	ENSP00000451792.1:n.252+256C>A
ENST00000556403.5:n.288C>A
ENST00000556494.5:n.307C>A
ENST00000557541.5:n.446-27C>A
ENST00000557706.5:n.622C>A
NM_000155.3:c.275C>A	NP_000146.2:p.Thr92Asn
NM_001258332.1:c.50+256C>A	NP_001245261.1:n.50+256C>A
NM_000155.4:c.275C>A MANE Select	NP_000146.2:p.Thr92Asn
NM_001258332.2:c.50+256C>A	NP_001245261.1:n.50+256C>A