Canonical Allele Identifier: CA373283605

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648798G>C (hg19) ; chr9:g.34648801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648801G>C , CM000671.2:g.34648801G>C	GRCh38
NC_000009.11:g.34648798G>C , CM000671.1:g.34648798G>C	GRCh37
NC_000009.10:g.34638798G>C	NCBI36
NG_009029.1:g.7164G>C
NG_028966.1:g.1617G>C
NG_009029.2:g.7213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*315G>C	ENSP00000509954.1:n.*315G>C
ENST00000378842.8:c.727G>C MANE Select	ENSP00000368119.4:p.Val243Leu
ENST00000378842.7:c.727G>C	ENSP00000368119.3:p.Val243Leu
ENST00000450095.6:c.400G>C	ENSP00000401956.2:p.Val134Leu
ENST00000473506.6:c.*315G>C	ENSP00000432839.2:n.*315G>C
ENST00000473529.5:n.886G>C
ENST00000487381.5:n.1417G>C
ENST00000489643.6:n.807G>C
ENST00000554085.5:c.*471G>C	ENSP00000450419.1:n.*471G>C
ENST00000554550.5:c.*347G>C	ENSP00000451435.1:n.*347G>C
ENST00000554638.5:n.1199G>C
ENST00000555020.5:n.1188G>C
ENST00000555086.5:n.731G>C
ENST00000555754.1:n.72G>C
ENST00000556244.1:c.714G>C
ENST00000556278.1:c.432+345G>C	ENSP00000451792.1:n.432+345G>C
ENST00000557706.5:n.1289G>C
NM_000155.3:c.727G>C	NP_000146.2:p.Val243Leu
NM_001258332.1:c.400G>C	NP_001245261.1:p.Val134Leu
NM_000155.4:c.727G>C MANE Select	NP_000146.2:p.Val243Leu
NM_001258332.2:c.400G>C	NP_001245261.1:p.Val134Leu