Canonical Allele Identifier: CA416691122

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24124685G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798195G>A , CM000663.2:g.23798195G>A	GRCh38
NC_000001.10:g.24124685G>A , CM000663.1:g.24124685G>A	GRCh37
NC_000001.9:g.23997272G>A	NCBI36
NG_007068.1:g.7610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.273C>T MANE Select	ENSP00000483375.1:p.Leu91=
ENST00000374497.7:c.273C>T	ENSP00000363621.3:p.Leu91=
ENST00000418277.5:c.81C>T	ENSP00000414719.1:p.Leu27=
ENST00000425913.5:c.273C>T	ENSP00000393359.1:p.Leu91=
ENST00000429356.5:c.81C>T	ENSP00000398585.1:p.Leu27=
ENST00000445705.1:c.273C>T	ENSP00000398257.1:p.Leu91=
ENST00000459934.5:n.391C>T
ENST00000467493.5:n.733C>T
ENST00000470949.5:n.218C>T
ENST00000481736.5:n.677C>T
ENST00000486382.1:n.374C>T
ENST00000617979.4:c.273C>T	ENSP00000483375.1:p.Leu91=
NM_000403.3:c.273C>T	NP_000394.2:p.Leu91=
NM_001008216.1:c.273C>T	NP_001008217.1:p.Leu91=
NM_001127621.1:c.273C>T	NP_001121093.1:p.Leu91=
NM_001008216.2:c.273C>T MANE Select	NP_001008217.1:p.Leu91=
NM_000403.4:c.273C>T	NP_000394.2:p.Leu91=
NM_001127621.2:c.273C>T	NP_001121093.1:p.Leu91=