Canonical Allele Identifier: CA464402971

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648789T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648792T>C , CM000671.2:g.34648792T>C	GRCh38
NC_000009.11:g.34648789T>C , CM000671.1:g.34648789T>C	GRCh37
NC_000009.10:g.34638789T>C	NCBI36
NG_009029.1:g.7155T>C
NG_028966.1:g.1608T>C
NG_009029.2:g.7204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*306T>C	ENSP00000509954.1:n.*306T>C
ENST00000378842.8:c.718T>C MANE Select	ENSP00000368119.4:p.Leu240=
ENST00000378842.7:c.718T>C	ENSP00000368119.3:p.Leu240=
ENST00000450095.6:c.391T>C	ENSP00000401956.2:p.Leu131=
ENST00000473506.6:c.*306T>C	ENSP00000432839.2:n.*306T>C
ENST00000473529.5:n.877T>C
ENST00000487381.5:n.1408T>C
ENST00000489643.6:n.798T>C
ENST00000554085.5:c.*462T>C	ENSP00000450419.1:n.*462T>C
ENST00000554550.5:c.*338T>C	ENSP00000451435.1:n.*338T>C
ENST00000554638.5:n.1190T>C
ENST00000555020.5:n.1179T>C
ENST00000555086.5:n.722T>C
ENST00000555754.1:n.63T>C
ENST00000556244.1:c.705T>C
ENST00000556278.1:c.432+336T>C	ENSP00000451792.1:n.432+336T>C
ENST00000557706.5:n.1280T>C
NM_000155.3:c.718T>C	NP_000146.2:p.Leu240=
NM_001258332.1:c.391T>C	NP_001245261.1:p.Leu131=
NM_000155.4:c.718T>C MANE Select	NP_000146.2:p.Leu240=
NM_001258332.2:c.391T>C	NP_001245261.1:p.Leu131=