Canonical Allele Identifier: CA5036028

Gene: GALT

Linked Data

• ClinVar Variation Id: 1613003
• ClinVar RCV Id: RCV002171051
• dbSNP Id: rs767903479
• ExAC: 9:34647132 G / T
• gnomAD v2: 9-34647132-G-T
• gnomAD v4: 9-34647135-G-T
• MyVariant Identifiers: chr9:g.34647132G>T (hg19) ; chr9:g.34647135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647135G>T , CM000671.2:g.34647135G>T	GRCh38
NC_000009.11:g.34647132G>T , CM000671.1:g.34647132G>T	GRCh37
NC_000009.10:g.34637132G>T	NCBI36
NG_009029.1:g.5498G>T
NG_009029.2:g.5547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.129G>T	ENSP00000509954.1:p.Leu43=
ENST00000378842.8:c.129G>T MANE Select	ENSP00000368119.4:p.Leu43=
ENST00000378842.7:c.129G>T	ENSP00000368119.3:p.Leu43=
ENST00000450095.6:c.-74G>T	ENSP00000401956.2:n.-74G>T
ENST00000465543.6:n.468G>T
ENST00000468099.2:n.169G>T
ENST00000472111.5:n.170G>T
ENST00000473506.6:c.129G>T	ENSP00000432839.2:p.Leu43=
ENST00000473529.5:n.176G>T
ENST00000485531.1:n.122G>T
ENST00000487381.5:n.155G>T
ENST00000489643.6:n.159G>T
ENST00000554085.5:c.129G>T	ENSP00000450419.1:p.Leu43=
ENST00000554139.5:n.182G>T
ENST00000554330.5:n.126G>T
ENST00000554550.5:c.129G>T	ENSP00000451435.1:p.Leu43=
ENST00000554638.5:n.153G>T
ENST00000554897.5:c.129G>T	ENSP00000450942.1:p.Leu43=
ENST00000554944.5:n.159G>T
ENST00000555020.5:n.159G>T
ENST00000555086.5:n.133G>T
ENST00000555214.5:n.138G>T
ENST00000556157.1:n.236G>T
ENST00000556244.1:c.13G>T
ENST00000556278.1:c.129G>T	ENSP00000451792.1:p.Leu43=
ENST00000556403.5:n.142G>T
ENST00000556494.5:n.161G>T
ENST00000557541.5:n.322G>T
ENST00000557706.5:n.243G>T
ENST00000605275.1:n.667G>T
NM_000155.3:c.129G>T	NP_000146.2:p.Leu43=
NM_001258332.1:c.-74G>T	NP_001245261.1:n.-74G>T
NM_000155.4:c.129G>T MANE Select	NP_000146.2:p.Leu43=
NM_001258332.2:c.-74G>T	NP_001245261.1:n.-74G>T