Canonical Allele Identifier: CA373280616

Gene: GALT

Linked Data

• dbSNP Id: rs1587238422
• MyVariant Identifiers: chr9:g.34647846A>C (hg19) ; chr9:g.34647849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647849A>C , CM000671.2:g.34647849A>C	GRCh38
NC_000009.11:g.34647846A>C , CM000671.1:g.34647846A>C	GRCh37
NC_000009.10:g.34637846A>C	NCBI36
NG_009029.1:g.6212A>C
NG_028966.1:g.665A>C
NG_009029.2:g.6261A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.346A>C	ENSP00000509954.1:p.Thr116Pro
ENST00000378842.8:c.395A>C MANE Select	ENSP00000368119.4:p.His132Pro
ENST00000378842.7:c.395A>C	ENSP00000368119.3:p.His132Pro
ENST00000450095.6:c.68A>C	ENSP00000401956.2:p.His23Pro
ENST00000465543.6:n.734A>C
ENST00000472111.5:n.651A>C
ENST00000473506.6:c.346A>C	ENSP00000432839.2:p.Thr116Pro
ENST00000473529.5:n.531A>C
ENST00000485531.1:n.836A>C
ENST00000487381.5:n.780A>C
ENST00000489643.6:n.283-266A>C
ENST00000554085.5:c.*139A>C	ENSP00000450419.1:n.*139A>C
ENST00000554139.5:n.574A>C
ENST00000554330.5:n.558A>C
ENST00000554550.5:c.*15A>C	ENSP00000451435.1:n.*15A>C
ENST00000554638.5:n.867A>C
ENST00000554897.5:c.*15A>C	ENSP00000450942.1:n.*15A>C
ENST00000554944.5:n.591A>C
ENST00000555020.5:n.551A>C
ENST00000555086.5:n.399A>C
ENST00000555214.5:n.262-199A>C
ENST00000556244.1:c.382A>C
ENST00000556278.1:c.253-266A>C	ENSP00000451792.1:n.253-266A>C
ENST00000556494.5:n.516A>C
ENST00000557541.5:n.539A>C
ENST00000557706.5:n.957A>C
NM_000155.3:c.395A>C	NP_000146.2:p.His132Pro
NM_001258332.1:c.68A>C	NP_001245261.1:p.His23Pro
NM_000155.4:c.395A>C MANE Select	NP_000146.2:p.His132Pro
NM_001258332.2:c.68A>C	NP_001245261.1:p.His23Pro