Canonical Allele Identifier: CA464402985

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648794A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648797A>C , CM000671.2:g.34648797A>C	GRCh38
NC_000009.11:g.34648794A>C , CM000671.1:g.34648794A>C	GRCh37
NC_000009.10:g.34638794A>C	NCBI36
NG_009029.1:g.7160A>C
NG_028966.1:g.1613A>C
NG_009029.2:g.7209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*311A>C	ENSP00000509954.1:n.*311A>C
ENST00000378842.8:c.723A>C MANE Select	ENSP00000368119.4:p.Val241=
ENST00000378842.7:c.723A>C	ENSP00000368119.3:p.Val241=
ENST00000450095.6:c.396A>C	ENSP00000401956.2:p.Val132=
ENST00000473506.6:c.*311A>C	ENSP00000432839.2:n.*311A>C
ENST00000473529.5:n.882A>C
ENST00000487381.5:n.1413A>C
ENST00000489643.6:n.803A>C
ENST00000554085.5:c.*467A>C	ENSP00000450419.1:n.*467A>C
ENST00000554550.5:c.*343A>C	ENSP00000451435.1:n.*343A>C
ENST00000554638.5:n.1195A>C
ENST00000555020.5:n.1184A>C
ENST00000555086.5:n.727A>C
ENST00000555754.1:n.68A>C
ENST00000556244.1:c.710A>C
ENST00000556278.1:c.432+341A>C	ENSP00000451792.1:n.432+341A>C
ENST00000557706.5:n.1285A>C
NM_000155.3:c.723A>C	NP_000146.2:p.Val241=
NM_001258332.1:c.396A>C	NP_001245261.1:p.Val132=
NM_000155.4:c.723A>C MANE Select	NP_000146.2:p.Val241=
NM_001258332.2:c.396A>C	NP_001245261.1:p.Val132=