Canonical Allele Identifier: CA373278180

Gene: GALT

Linked Data

• gnomAD v4: 9-34646712-G-C
• MyVariant Identifiers: chr9:g.34646709G>C (hg19) ; chr9:g.34646712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646712G>C , CM000671.2:g.34646712G>C	GRCh38
NC_000009.11:g.34646709G>C , CM000671.1:g.34646709G>C	GRCh37
NC_000009.10:g.34636709G>C	NCBI36
NG_009029.1:g.5075G>C
NG_009029.2:g.5124G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.8G>C	ENSP00000509954.1:p.Arg3Pro
ENST00000378842.8:c.8G>C MANE Select	ENSP00000368119.4:p.Arg3Pro
ENST00000378842.7:c.8G>C	ENSP00000368119.3:p.Arg3Pro
ENST00000450095.6:c.-195G>C	ENSP00000401956.2:n.-195G>C
ENST00000465543.6:n.45G>C
ENST00000468099.2:n.80G>C
ENST00000472111.5:n.49G>C
ENST00000473506.6:c.8G>C	ENSP00000432839.2:p.Arg3Pro
ENST00000473529.5:n.55G>C
ENST00000487381.5:n.34G>C
ENST00000489643.6:n.38G>C
ENST00000554085.5:c.8G>C	ENSP00000450419.1:p.Arg3Pro
ENST00000554139.5:n.61G>C
ENST00000554550.5:c.8G>C	ENSP00000451435.1:p.Arg3Pro
ENST00000554638.5:n.32G>C
ENST00000554897.5:c.8G>C	ENSP00000450942.1:p.Arg3Pro
ENST00000554944.5:n.38G>C
ENST00000555020.5:n.38G>C
ENST00000555214.5:n.17G>C
ENST00000556278.1:c.8G>C	ENSP00000451792.1:p.Arg3Pro
ENST00000557541.5:n.68G>C
ENST00000605275.1:n.244G>C
NM_000155.3:c.8G>C	NP_000146.2:p.Arg3Pro
NM_001258332.1:c.-195G>C	NP_001245261.1:n.-195G>C
NM_000155.4:c.8G>C MANE Select	NP_000146.2:p.Arg3Pro
NM_001258332.2:c.-195G>C	NP_001245261.1:n.-195G>C