Canonical Allele Identifier: CA416614972

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24123065C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796575C>A , CM000663.2:g.23796575C>A	GRCh38
NC_000001.10:g.24123065C>A , CM000663.1:g.24123065C>A	GRCh37
NC_000001.9:g.23995652C>A	NCBI36
NG_007068.1:g.9230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.807G>T MANE Select	ENSP00000483375.1:p.Leu269=
ENST00000374497.7:c.807G>T	ENSP00000363621.3:p.Leu269=
ENST00000418277.5:c.615G>T	ENSP00000414719.1:p.Leu205=
ENST00000429356.5:c.603+122G>T	ENSP00000398585.1:n.603+122G>T
ENST00000456977.5:c.153+122G>T	ENSP00000397045.1:n.153+122G>T
ENST00000459934.5:n.1035G>T
ENST00000469556.1:n.311G>T
ENST00000481736.5:n.1211G>T
ENST00000617979.4:c.807G>T	ENSP00000483375.1:p.Leu269=
NM_000403.3:c.807G>T	NP_000394.2:p.Leu269=
NM_001008216.1:c.807G>T	NP_001008217.1:p.Leu269=
NM_001127621.1:c.807G>T	NP_001121093.1:p.Leu269=
NM_001008216.2:c.807G>T MANE Select	NP_001008217.1:p.Leu269=
NM_000403.4:c.807G>T	NP_000394.2:p.Leu269=
NM_001127621.2:c.807G>T	NP_001121093.1:p.Leu269=