Canonical Allele Identifier: CA339006649

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24123020C>T (hg19) ; chr1:g.23796530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796530C>T , CM000663.2:g.23796530C>T	GRCh38
NC_000001.10:g.24123020C>T , CM000663.1:g.24123020C>T	GRCh37
NC_000001.9:g.23995607C>T	NCBI36
NG_007068.1:g.9275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.852G>A MANE Select	ENSP00000483375.1:p.Met284Ile
ENST00000374497.7:c.852G>A	ENSP00000363621.3:p.Met284Ile
ENST00000418277.5:c.660G>A	ENSP00000414719.1:p.Met220Ile
ENST00000429356.5:c.603+167G>A	ENSP00000398585.1:n.603+167G>A
ENST00000456977.5:c.153+167G>A	ENSP00000397045.1:n.153+167G>A
ENST00000459934.5:n.1080G>A
ENST00000469556.1:n.356G>A
ENST00000481736.5:n.1256G>A
ENST00000617979.4:c.852G>A	ENSP00000483375.1:p.Met284Ile
NM_000403.3:c.852G>A	NP_000394.2:p.Met284Ile
NM_001008216.1:c.852G>A	NP_001008217.1:p.Met284Ile
NM_001127621.1:c.852G>A	NP_001121093.1:p.Met284Ile
NM_001008216.2:c.852G>A MANE Select	NP_001008217.1:p.Met284Ile
NM_000403.4:c.852G>A	NP_000394.2:p.Met284Ile
NM_001127621.2:c.852G>A	NP_001121093.1:p.Met284Ile