Canonical Allele Identifier: CA5036213

Gene: GALT

Linked Data

• dbSNP Id: rs373746564
• ExAC: 9:34648863 A / G
• gnomAD v2: 9-34648863-A-G
• gnomAD v3: 9-34648866-A-G
• gnomAD v4: 9-34648866-A-G
• MyVariant Identifiers: chr9:g.34648863A>G (hg19) ; chr9:g.34648866A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648866A>G , CM000671.2:g.34648866A>G	GRCh38
NC_000009.11:g.34648863A>G , CM000671.1:g.34648863A>G	GRCh37
NC_000009.10:g.34638863A>G	NCBI36
NG_009029.1:g.7229A>G
NG_028966.1:g.1682A>G
NG_009029.2:g.7278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*380A>G	ENSP00000509954.1:n.*380A>G
ENST00000378842.8:c.792A>G MANE Select	ENSP00000368119.4:p.Leu264=
ENST00000378842.7:c.792A>G	ENSP00000368119.3:p.Leu264=
ENST00000450095.6:c.465A>G	ENSP00000401956.2:p.Leu155=
ENST00000473506.6:c.*380A>G	ENSP00000432839.2:n.*380A>G
ENST00000489643.6:n.872A>G
ENST00000554085.5:c.*536A>G	ENSP00000450419.1:n.*536A>G
ENST00000554550.5:c.*412A>G	ENSP00000451435.1:n.*412A>G
ENST00000554638.5:n.1264A>G
ENST00000555020.5:n.1253A>G
ENST00000555086.5:n.796A>G
ENST00000555754.1:n.137A>G
ENST00000556244.1:c.779A>G
ENST00000556278.1:c.432+410A>G	ENSP00000451792.1:n.432+410A>G
ENST00000557706.5:n.1354A>G
NM_000155.3:c.792A>G	NP_000146.2:p.Leu264=
NM_001258332.1:c.465A>G	NP_001245261.1:p.Leu155=
NM_000155.4:c.792A>G MANE Select	NP_000146.2:p.Leu264=
NM_001258332.2:c.465A>G	NP_001245261.1:p.Leu155=