Canonical Allele Identifier: CA386881184

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420278C>A (hg19) ; chr12:g.115982473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982473C>A , CM000674.2:g.115982473C>A	GRCh38
NC_000012.11:g.116420278C>A , CM000674.1:g.116420278C>A	GRCh37
NC_000012.10:g.114904661C>A	NCBI36
NG_023366.1:g.299714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5086G>T MANE Select	ENSP00000281928.3:p.Gly1696Trp
ENST00000549786.2:c.4514G>T
ENST00000648379.1:n.3454G>T
ENST00000648737.1:n.4850G>T
ENST00000648825.1:n.1826G>T
ENST00000648916.1:n.3097G>T
ENST00000649146.1:n.2329G>T
ENST00000649607.1:c.3270G>T
ENST00000649775.1:c.1575G>T
ENST00000650226.1:c.5086G>T	ENSP00000496981.1:p.Gly1696Trp
ENST00000281928.7:c.5086G>T	ENSP00000281928.3:p.Gly1696Trp
ENST00000549786.1:c.450G>T
ENST00000552340.1:c.118G>T	ENSP00000449876.1:p.Gly40Trp
NM_015335.4:c.5086G>T	NP_056150.1:p.Gly1696Trp
XM_011538080.1:c.5086G>T	XP_011536382.1:p.Gly1696Trp
XM_011538081.1:c.5083G>T	XP_011536383.1:p.Gly1695Trp
XM_011538082.1:c.5056G>T	XP_011536384.1:p.Gly1686Trp
XM_011538080.2:c.5086G>T	XP_011536382.1:p.Gly1696Trp
XM_011538081.2:c.5083G>T	XP_011536383.1:p.Gly1695Trp
XM_011538082.2:c.5056G>T	XP_011536384.1:p.Gly1686Trp
XM_017019090.1:c.5083G>T	XP_016874579.1:p.Gly1695Trp
NM_015335.5:c.5086G>T MANE Select	NP_056150.1:p.Gly1696Trp