Canonical Allele Identifier: CA386881271

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420317C>A (hg19) ; chr12:g.115982512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982512C>A , CM000674.2:g.115982512C>A	GRCh38
NC_000012.11:g.116420317C>A , CM000674.1:g.116420317C>A	GRCh37
NC_000012.10:g.114904700C>A	NCBI36
NG_023366.1:g.299675G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5047G>T MANE Select	ENSP00000281928.3:p.Asp1683Tyr
ENST00000549786.2:c.4475G>T
ENST00000648379.1:n.3415G>T
ENST00000648737.1:n.4811G>T
ENST00000648825.1:n.1787G>T
ENST00000648916.1:n.3058G>T
ENST00000649146.1:n.2290G>T
ENST00000649607.1:c.3231G>T
ENST00000649775.1:c.1536G>T
ENST00000650226.1:c.5047G>T	ENSP00000496981.1:p.Asp1683Tyr
ENST00000281928.7:c.5047G>T	ENSP00000281928.3:p.Asp1683Tyr
ENST00000549786.1:c.411G>T
ENST00000552340.1:c.79G>T	ENSP00000449876.1:p.Asp27Tyr
NM_015335.4:c.5047G>T	NP_056150.1:p.Asp1683Tyr
XM_011538080.1:c.5047G>T	XP_011536382.1:p.Asp1683Tyr
XM_011538081.1:c.5044G>T	XP_011536383.1:p.Asp1682Tyr
XM_011538082.1:c.5017G>T	XP_011536384.1:p.Asp1673Tyr
XM_011538080.2:c.5047G>T	XP_011536382.1:p.Asp1683Tyr
XM_011538081.2:c.5044G>T	XP_011536383.1:p.Asp1682Tyr
XM_011538082.2:c.5017G>T	XP_011536384.1:p.Asp1673Tyr
XM_017019090.1:c.5044G>T	XP_016874579.1:p.Asp1682Tyr
NM_015335.5:c.5047G>T MANE Select	NP_056150.1:p.Asp1683Tyr