Canonical Allele Identifier: CA464402260

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648417G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648420G>C , CM000671.2:g.34648420G>C	GRCh38
NC_000009.11:g.34648417G>C , CM000671.1:g.34648417G>C	GRCh37
NC_000009.10:g.34638417G>C	NCBI36
NG_009029.1:g.6783G>C
NG_028966.1:g.1236G>C
NG_009029.2:g.6832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*239G>C	ENSP00000509954.1:n.*239G>C
ENST00000378842.8:c.651G>C MANE Select	ENSP00000368119.4:p.Leu217=
ENST00000378842.7:c.651G>C	ENSP00000368119.3:p.Leu217=
ENST00000450095.6:c.324G>C	ENSP00000401956.2:p.Leu108=
ENST00000472111.5:n.907G>C
ENST00000473506.6:c.*239G>C	ENSP00000432839.2:n.*239G>C
ENST00000473529.5:n.810G>C
ENST00000487381.5:n.1036G>C
ENST00000489643.6:n.426G>C
ENST00000554085.5:c.*395G>C	ENSP00000450419.1:n.*395G>C
ENST00000554550.5:c.*271G>C	ENSP00000451435.1:n.*271G>C
ENST00000554638.5:n.1123G>C
ENST00000555020.5:n.807G>C
ENST00000555086.5:n.655G>C
ENST00000555214.5:n.472G>C
ENST00000556244.1:c.638G>C
ENST00000556278.1:c.396G>C	ENSP00000451792.1:p.Leu132=
ENST00000556494.5:n.772G>C
ENST00000557706.5:n.1213G>C
NM_000155.3:c.651G>C	NP_000146.2:p.Leu217=
NM_001258332.1:c.324G>C	NP_001245261.1:p.Leu108=
NM_000155.4:c.651G>C MANE Select	NP_000146.2:p.Leu217=
NM_001258332.2:c.324G>C	NP_001245261.1:p.Leu108=