Canonical Allele Identifier: CA5036168

Gene: GALT

Linked Data

• dbSNP Id: rs754930588
• ExAC: 9:34648303 G / C
• gnomAD v2: 9-34648303-G-C
• gnomAD v4: 9-34648306-G-C
• MyVariant Identifiers: chr9:g.34648303G>C (hg19) ; chr9:g.34648303_34648306delinsCTTC (hg19) ; chr9:g.34648306G>C (hg38) ; chr9:g.34648306_34648309delinsCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648306G>C , CM000671.2:g.34648306G>C	GRCh38
NC_000009.11:g.34648303G>C , CM000671.1:g.34648303G>C	GRCh37
NC_000009.10:g.34638303G>C	NCBI36
NG_009029.1:g.6669G>C
NG_028966.1:g.1122G>C
NG_009029.2:g.6718G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*153-28G>C	ENSP00000509954.1:n.*153-28G>C
ENST00000378842.8:c.565-28G>C MANE Select	ENSP00000368119.4:n.565-28G>C
ENST00000378842.7:c.565-28G>C	ENSP00000368119.3:n.565-28G>C
ENST00000450095.6:c.238-28G>C	ENSP00000401956.2:n.238-28G>C
ENST00000472111.5:n.821-28G>C
ENST00000473506.6:c.*153-28G>C	ENSP00000432839.2:n.*153-28G>C
ENST00000473529.5:n.724-28G>C
ENST00000485531.1:n.1159-28G>C
ENST00000487381.5:n.950-28G>C
ENST00000489643.6:n.340-28G>C
ENST00000554085.5:c.*309-28G>C	ENSP00000450419.1:n.*309-28G>C
ENST00000554139.5:n.811-28G>C
ENST00000554550.5:c.*185-28G>C	ENSP00000451435.1:n.*185-28G>C
ENST00000554638.5:n.1037-28G>C
ENST00000554897.5:c.*252-28G>C	ENSP00000450942.1:n.*252-28G>C
ENST00000554944.5:n.914-28G>C
ENST00000555020.5:n.721-28G>C
ENST00000555086.5:n.569-28G>C
ENST00000555214.5:n.386-28G>C
ENST00000556244.1:c.552-28G>C
ENST00000556278.1:c.310-28G>C	ENSP00000451792.1:n.310-28G>C
ENST00000556494.5:n.686-28G>C
ENST00000557706.5:n.1127-28G>C
NM_000155.3:c.565-28G>C	NP_000146.2:n.565-28G>C
NM_001258332.1:c.238-28G>C	NP_001245261.1:n.238-28G>C
NM_000155.4:c.565-28G>C MANE Select	NP_000146.2:n.565-28G>C
NM_001258332.2:c.238-28G>C	NP_001245261.1:n.238-28G>C