Canonical Allele Identifier: CA339006834

Gene: GALE

Linked Data

• gnomAD v4: 1-23796576-A-C
• MyVariant Identifiers: chr1:g.24123066A>C (hg19) ; chr1:g.23796576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796576A>C , CM000663.2:g.23796576A>C	GRCh38
NC_000001.10:g.24123066A>C , CM000663.1:g.24123066A>C	GRCh37
NC_000001.9:g.23995653A>C	NCBI36
NG_007068.1:g.9229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.806T>G MANE Select	ENSP00000483375.1:p.Leu269Arg
ENST00000374497.7:c.806T>G	ENSP00000363621.3:p.Leu269Arg
ENST00000418277.5:c.614T>G	ENSP00000414719.1:p.Leu205Arg
ENST00000429356.5:c.603+121T>G	ENSP00000398585.1:n.603+121T>G
ENST00000456977.5:c.153+121T>G	ENSP00000397045.1:n.153+121T>G
ENST00000459934.5:n.1034T>G
ENST00000469556.1:n.310T>G
ENST00000481736.5:n.1210T>G
ENST00000617979.4:c.806T>G	ENSP00000483375.1:p.Leu269Arg
NM_000403.3:c.806T>G	NP_000394.2:p.Leu269Arg
NM_001008216.1:c.806T>G	NP_001008217.1:p.Leu269Arg
NM_001127621.1:c.806T>G	NP_001121093.1:p.Leu269Arg
NM_001008216.2:c.806T>G MANE Select	NP_001008217.1:p.Leu269Arg
NM_000403.4:c.806T>G	NP_000394.2:p.Leu269Arg
NM_001127621.2:c.806T>G	NP_001121093.1:p.Leu269Arg