Canonical Allele Identifier: CA416614935

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24123038C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796548C>G , CM000663.2:g.23796548C>G	GRCh38
NC_000001.10:g.24123038C>G , CM000663.1:g.24123038C>G	GRCh37
NC_000001.9:g.23995625C>G	NCBI36
NG_007068.1:g.9257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.834G>C MANE Select	ENSP00000483375.1:p.Leu278=
ENST00000374497.7:c.834G>C	ENSP00000363621.3:p.Leu278=
ENST00000418277.5:c.642G>C	ENSP00000414719.1:p.Leu214=
ENST00000429356.5:c.603+149G>C	ENSP00000398585.1:n.603+149G>C
ENST00000456977.5:c.153+149G>C	ENSP00000397045.1:n.153+149G>C
ENST00000459934.5:n.1062G>C
ENST00000469556.1:n.338G>C
ENST00000481736.5:n.1238G>C
ENST00000617979.4:c.834G>C	ENSP00000483375.1:p.Leu278=
NM_000403.3:c.834G>C	NP_000394.2:p.Leu278=
NM_001008216.1:c.834G>C	NP_001008217.1:p.Leu278=
NM_001127621.1:c.834G>C	NP_001121093.1:p.Leu278=
NM_001008216.2:c.834G>C MANE Select	NP_001008217.1:p.Leu278=
NM_000403.4:c.834G>C	NP_000394.2:p.Leu278=
NM_001127621.2:c.834G>C	NP_001121093.1:p.Leu278=