Canonical Allele Identifier: CA339006729

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24123037G>C (hg19) ; chr1:g.23796547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796547G>C , CM000663.2:g.23796547G>C	GRCh38
NC_000001.10:g.24123037G>C , CM000663.1:g.24123037G>C	GRCh37
NC_000001.9:g.23995624G>C	NCBI36
NG_007068.1:g.9258C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.835C>G MANE Select	ENSP00000483375.1:p.Gln279Glu
ENST00000374497.7:c.835C>G	ENSP00000363621.3:p.Gln279Glu
ENST00000418277.5:c.643C>G	ENSP00000414719.1:p.Gln215Glu
ENST00000429356.5:c.603+150C>G	ENSP00000398585.1:n.603+150C>G
ENST00000456977.5:c.153+150C>G	ENSP00000397045.1:n.153+150C>G
ENST00000459934.5:n.1063C>G
ENST00000469556.1:n.339C>G
ENST00000481736.5:n.1239C>G
ENST00000617979.4:c.835C>G	ENSP00000483375.1:p.Gln279Glu
NM_000403.3:c.835C>G	NP_000394.2:p.Gln279Glu
NM_001008216.1:c.835C>G	NP_001008217.1:p.Gln279Glu
NM_001127621.1:c.835C>G	NP_001121093.1:p.Gln279Glu
NM_001008216.2:c.835C>G MANE Select	NP_001008217.1:p.Gln279Glu
NM_000403.4:c.835C>G	NP_000394.2:p.Gln279Glu
NM_001127621.2:c.835C>G	NP_001121093.1:p.Gln279Glu