Canonical Allele Identifier: CA464595748

Gene: GALT

Linked Data

• ClinVar Variation Id: 1111324
• ClinVar RCV Id: RCV001437873
• dbSNP Id: rs1262655852
• MyVariant Identifiers: chr9:g.34647560T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647563T>C , CM000671.2:g.34647563T>C	GRCh38
NC_000009.11:g.34647560T>C , CM000671.1:g.34647560T>C	GRCh37
NC_000009.10:g.34637560T>C	NCBI36
NG_009029.1:g.5926T>C
NG_028966.1:g.379T>C
NG_009029.2:g.5975T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.324T>C	ENSP00000509954.1:p.Ser108=
ENST00000378842.8:c.324T>C MANE Select	ENSP00000368119.4:p.Ser108=
ENST00000378842.7:c.324T>C	ENSP00000368119.3:p.Ser108=
ENST00000450095.6:c.51-269T>C	ENSP00000401956.2:n.51-269T>C
ENST00000465543.6:n.663T>C
ENST00000472111.5:n.365T>C
ENST00000473506.6:c.275T>C	ENSP00000432839.2:p.Val92Ala
ENST00000473529.5:n.371T>C
ENST00000485531.1:n.550T>C
ENST00000487381.5:n.583T>C
ENST00000489643.6:n.282+305T>C
ENST00000554085.5:c.*68T>C	ENSP00000450419.1:n.*68T>C
ENST00000554139.5:n.377T>C
ENST00000554330.5:n.272T>C
ENST00000554550.5:c.253-269T>C	ENSP00000451435.1:n.253-269T>C
ENST00000554638.5:n.581T>C
ENST00000554897.5:c.253-269T>C	ENSP00000450942.1:n.253-269T>C
ENST00000554944.5:n.305T>C
ENST00000555020.5:n.354T>C
ENST00000555086.5:n.328T>C
ENST00000555214.5:n.261+305T>C
ENST00000556157.1:n.448T>C
ENST00000556244.1:c.311T>C
ENST00000556278.1:c.252+305T>C	ENSP00000451792.1:n.252+305T>C
ENST00000556403.5:n.337T>C
ENST00000556494.5:n.356T>C
ENST00000557541.5:n.468T>C
ENST00000557706.5:n.671T>C
NM_000155.3:c.324T>C	NP_000146.2:p.Ser108=
NM_001258332.1:c.51-269T>C	NP_001245261.1:n.51-269T>C
NM_000155.4:c.324T>C MANE Select	NP_000146.2:p.Ser108=
NM_001258332.2:c.51-269T>C	NP_001245261.1:n.51-269T>C