Canonical Allele Identifier: CA386883849

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422173C>A (hg19) ; chr12:g.115984368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984368C>A , CM000674.2:g.115984368C>A	GRCh38
NC_000012.11:g.116422173C>A , CM000674.1:g.116422173C>A	GRCh37
NC_000012.10:g.114906556C>A	NCBI36
NG_023366.1:g.297819G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4343G>T MANE Select	ENSP00000281928.3:p.Cys1448Phe
ENST00000549786.2:c.3771G>T
ENST00000648379.1:n.2711G>T
ENST00000648737.1:n.4107G>T
ENST00000648825.1:n.1083G>T
ENST00000648916.1:n.2354G>T
ENST00000649146.1:n.1073G>T
ENST00000649607.1:c.2527G>T
ENST00000649775.1:c.840G>T
ENST00000650091.1:n.2319G>T
ENST00000650226.1:c.4343G>T	ENSP00000496981.1:p.Cys1448Phe
ENST00000281928.7:c.4343G>T	ENSP00000281928.3:p.Cys1448Phe
NM_015335.4:c.4343G>T	NP_056150.1:p.Cys1448Phe
XM_011538080.1:c.4343G>T	XP_011536382.1:p.Cys1448Phe
XM_011538081.1:c.4340G>T	XP_011536383.1:p.Cys1447Phe
XM_011538082.1:c.4313G>T	XP_011536384.1:p.Cys1438Phe
XM_011538080.2:c.4343G>T	XP_011536382.1:p.Cys1448Phe
XM_011538081.2:c.4340G>T	XP_011536383.1:p.Cys1447Phe
XM_011538082.2:c.4313G>T	XP_011536384.1:p.Cys1438Phe
XM_017019090.1:c.4340G>T	XP_016874579.1:p.Cys1447Phe
NM_015335.5:c.4343G>T MANE Select	NP_056150.1:p.Cys1448Phe