Canonical Allele Identifier: CA481947946

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422145G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984340G>A , CM000674.2:g.115984340G>A	GRCh38
NC_000012.11:g.116422145G>A , CM000674.1:g.116422145G>A	GRCh37
NC_000012.10:g.114906528G>A	NCBI36
NG_023366.1:g.297847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4371C>T MANE Select	ENSP00000281928.3:p.Cys1457=
ENST00000549786.2:c.3799C>T
ENST00000648379.1:n.2739C>T
ENST00000648737.1:n.4135C>T
ENST00000648825.1:n.1111C>T
ENST00000648916.1:n.2382C>T
ENST00000649146.1:n.1101C>T
ENST00000649607.1:c.2555C>T
ENST00000649775.1:c.868C>T
ENST00000650091.1:n.2347C>T
ENST00000650226.1:c.4371C>T	ENSP00000496981.1:p.Cys1457=
ENST00000281928.7:c.4371C>T	ENSP00000281928.3:p.Cys1457=
NM_015335.4:c.4371C>T	NP_056150.1:p.Cys1457=
XM_011538080.1:c.4371C>T	XP_011536382.1:p.Cys1457=
XM_011538081.1:c.4368C>T	XP_011536383.1:p.Cys1456=
XM_011538082.1:c.4341C>T	XP_011536384.1:p.Cys1447=
XM_011538080.2:c.4371C>T	XP_011536382.1:p.Cys1457=
XM_011538081.2:c.4368C>T	XP_011536383.1:p.Cys1456=
XM_011538082.2:c.4341C>T	XP_011536384.1:p.Cys1447=
XM_017019090.1:c.4368C>T	XP_016874579.1:p.Cys1456=
NM_015335.5:c.4371C>T MANE Select	NP_056150.1:p.Cys1457=