Canonical Allele Identifier: CA339014185

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24124702T>C (hg19) ; chr1:g.23798212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798212T>C , CM000663.2:g.23798212T>C	GRCh38
NC_000001.10:g.24124702T>C , CM000663.1:g.24124702T>C	GRCh37
NC_000001.9:g.23997289T>C	NCBI36
NG_007068.1:g.7593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.256A>G MANE Select	ENSP00000483375.1:p.Ile86Val
ENST00000374497.7:c.256A>G	ENSP00000363621.3:p.Ile86Val
ENST00000418277.5:c.64A>G	ENSP00000414719.1:p.Ile22Val
ENST00000425913.5:c.256A>G	ENSP00000393359.1:p.Ile86Val
ENST00000429356.5:c.64A>G	ENSP00000398585.1:p.Ile22Val
ENST00000445705.1:c.256A>G	ENSP00000398257.1:p.Ile86Val
ENST00000459934.5:n.374A>G
ENST00000467493.5:n.716A>G
ENST00000470949.5:n.201A>G
ENST00000481736.5:n.660A>G
ENST00000486382.1:n.357A>G
ENST00000617979.4:c.256A>G	ENSP00000483375.1:p.Ile86Val
NM_000403.3:c.256A>G	NP_000394.2:p.Ile86Val
NM_001008216.1:c.256A>G	NP_001008217.1:p.Ile86Val
NM_001127621.1:c.256A>G	NP_001121093.1:p.Ile86Val
NM_001008216.2:c.256A>G MANE Select	NP_001008217.1:p.Ile86Val
NM_000403.4:c.256A>G	NP_000394.2:p.Ile86Val
NM_001127621.2:c.256A>G	NP_001121093.1:p.Ile86Val