Canonical Allele Identifier: CA386881362

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420358T>G (hg19) ; chr12:g.115982553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982553T>G , CM000674.2:g.115982553T>G	GRCh38
NC_000012.11:g.116420358T>G , CM000674.1:g.116420358T>G	GRCh37
NC_000012.10:g.114904741T>G	NCBI36
NG_023366.1:g.299634A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5006A>C MANE Select	ENSP00000281928.3:p.Asp1669Ala
ENST00000549786.2:c.4434A>C
ENST00000648379.1:n.3374A>C
ENST00000648737.1:n.4770A>C
ENST00000648825.1:n.1746A>C
ENST00000648916.1:n.3017A>C
ENST00000649146.1:n.2249A>C
ENST00000649607.1:c.3190A>C
ENST00000649775.1:c.1495A>C
ENST00000650226.1:c.5006A>C	ENSP00000496981.1:p.Asp1669Ala
ENST00000281928.7:c.5006A>C	ENSP00000281928.3:p.Asp1669Ala
ENST00000549786.1:c.370A>C
ENST00000552340.1:c.38A>C	ENSP00000449876.1:p.Asp13Ala
NM_015335.4:c.5006A>C	NP_056150.1:p.Asp1669Ala
XM_011538080.1:c.5006A>C	XP_011536382.1:p.Asp1669Ala
XM_011538081.1:c.5003A>C	XP_011536383.1:p.Asp1668Ala
XM_011538082.1:c.4976A>C	XP_011536384.1:p.Asp1659Ala
XM_011538080.2:c.5006A>C	XP_011536382.1:p.Asp1669Ala
XM_011538081.2:c.5003A>C	XP_011536383.1:p.Asp1668Ala
XM_011538082.2:c.4976A>C	XP_011536384.1:p.Asp1659Ala
XM_017019090.1:c.5003A>C	XP_016874579.1:p.Asp1668Ala
NM_015335.5:c.5006A>C MANE Select	NP_056150.1:p.Asp1669Ala