Canonical Allele Identifier: CA386881074

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420230C>G (hg19) ; chr12:g.115982425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982425C>G , CM000674.2:g.115982425C>G	GRCh38
NC_000012.11:g.116420230C>G , CM000674.1:g.116420230C>G	GRCh37
NC_000012.10:g.114904613C>G	NCBI36
NG_023366.1:g.299762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5134G>C MANE Select	ENSP00000281928.3:p.Asp1712His
ENST00000549786.2:c.4562G>C
ENST00000648379.1:n.3502G>C
ENST00000648737.1:n.4898G>C
ENST00000648825.1:n.1874G>C
ENST00000648916.1:n.3145G>C
ENST00000649146.1:n.2377G>C
ENST00000649607.1:c.3318G>C
ENST00000649775.1:c.1623G>C
ENST00000650226.1:c.5134G>C	ENSP00000496981.1:p.Asp1712His
ENST00000281928.7:c.5134G>C	ENSP00000281928.3:p.Asp1712His
ENST00000549786.1:c.498G>C
ENST00000552340.1:c.166G>C	ENSP00000449876.1:p.Asp56His
NM_015335.4:c.5134G>C	NP_056150.1:p.Asp1712His
XM_011538080.1:c.5134G>C	XP_011536382.1:p.Asp1712His
XM_011538081.1:c.5131G>C	XP_011536383.1:p.Asp1711His
XM_011538082.1:c.5104G>C	XP_011536384.1:p.Asp1702His
XM_011538080.2:c.5134G>C	XP_011536382.1:p.Asp1712His
XM_011538081.2:c.5131G>C	XP_011536383.1:p.Asp1711His
XM_011538082.2:c.5104G>C	XP_011536384.1:p.Asp1702His
XM_017019090.1:c.5131G>C	XP_016874579.1:p.Asp1711His
NM_015335.5:c.5134G>C MANE Select	NP_056150.1:p.Asp1712His