Canonical Allele Identifier: CA373283408

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648777A>C (hg19) ; chr9:g.34648780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648780A>C , CM000671.2:g.34648780A>C	GRCh38
NC_000009.11:g.34648777A>C , CM000671.1:g.34648777A>C	GRCh37
NC_000009.10:g.34638777A>C	NCBI36
NG_009029.1:g.7143A>C
NG_028966.1:g.1596A>C
NG_009029.2:g.7192A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*294A>C	ENSP00000509954.1:n.*294A>C
ENST00000378842.8:c.706A>C MANE Select	ENSP00000368119.4:p.Ser236Arg
ENST00000378842.7:c.706A>C	ENSP00000368119.3:p.Ser236Arg
ENST00000450095.6:c.379A>C	ENSP00000401956.2:p.Ser127Arg
ENST00000473506.6:c.*294A>C	ENSP00000432839.2:n.*294A>C
ENST00000473529.5:n.865A>C
ENST00000487381.5:n.1396A>C
ENST00000489643.6:n.786A>C
ENST00000554085.5:c.*450A>C	ENSP00000450419.1:n.*450A>C
ENST00000554550.5:c.*326A>C	ENSP00000451435.1:n.*326A>C
ENST00000554638.5:n.1178A>C
ENST00000555020.5:n.1167A>C
ENST00000555086.5:n.710A>C
ENST00000555754.1:n.51A>C
ENST00000556244.1:c.693A>C
ENST00000556278.1:c.432+324A>C	ENSP00000451792.1:n.432+324A>C
ENST00000557706.5:n.1268A>C
NM_000155.3:c.706A>C	NP_000146.2:p.Ser236Arg
NM_001258332.1:c.379A>C	NP_001245261.1:p.Ser127Arg
NM_000155.4:c.706A>C MANE Select	NP_000146.2:p.Ser236Arg
NM_001258332.2:c.379A>C	NP_001245261.1:p.Ser127Arg