Canonical Allele Identifier: CA481947932

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422127C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984322C>A , CM000674.2:g.115984322C>A	GRCh38
NC_000012.11:g.116422127C>A , CM000674.1:g.116422127C>A	GRCh37
NC_000012.10:g.114906510C>A	NCBI36
NG_023366.1:g.297865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4389G>T MANE Select	ENSP00000281928.3:p.Gly1463=
ENST00000549786.2:c.3817G>T
ENST00000648379.1:n.2757G>T
ENST00000648737.1:n.4153G>T
ENST00000648825.1:n.1129G>T
ENST00000648916.1:n.2400G>T
ENST00000649146.1:n.1119G>T
ENST00000649607.1:c.2573G>T
ENST00000649775.1:c.886G>T
ENST00000650091.1:n.2365G>T
ENST00000650226.1:c.4389G>T	ENSP00000496981.1:p.Gly1463=
ENST00000281928.7:c.4389G>T	ENSP00000281928.3:p.Gly1463=
NM_015335.4:c.4389G>T	NP_056150.1:p.Gly1463=
XM_011538080.1:c.4389G>T	XP_011536382.1:p.Gly1463=
XM_011538081.1:c.4386G>T	XP_011536383.1:p.Gly1462=
XM_011538082.1:c.4359G>T	XP_011536384.1:p.Gly1453=
XM_011538080.2:c.4389G>T	XP_011536382.1:p.Gly1463=
XM_011538081.2:c.4386G>T	XP_011536383.1:p.Gly1462=
XM_011538082.2:c.4359G>T	XP_011536384.1:p.Gly1453=
XM_017019090.1:c.4386G>T	XP_016874579.1:p.Gly1462=
NM_015335.5:c.4389G>T MANE Select	NP_056150.1:p.Gly1463=