Canonical Allele Identifier: CA481947857

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422076C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984271C>A , CM000674.2:g.115984271C>A	GRCh38
NC_000012.11:g.116422076C>A , CM000674.1:g.116422076C>A	GRCh37
NC_000012.10:g.114906459C>A	NCBI36
NG_023366.1:g.297916G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4440G>T MANE Select	ENSP00000281928.3:p.Val1480=
ENST00000549786.2:c.3868G>T
ENST00000648379.1:n.2808G>T
ENST00000648737.1:n.4204G>T
ENST00000648825.1:n.1180G>T
ENST00000648916.1:n.2451G>T
ENST00000649146.1:n.1170G>T
ENST00000649607.1:c.2624G>T
ENST00000649775.1:c.937G>T
ENST00000650091.1:n.2416G>T
ENST00000650226.1:c.4440G>T	ENSP00000496981.1:p.Val1480=
ENST00000281928.7:c.4440G>T	ENSP00000281928.3:p.Val1480=
NM_015335.4:c.4440G>T	NP_056150.1:p.Val1480=
XM_011538080.1:c.4440G>T	XP_011536382.1:p.Val1480=
XM_011538081.1:c.4437G>T	XP_011536383.1:p.Val1479=
XM_011538082.1:c.4410G>T	XP_011536384.1:p.Val1470=
XM_011538080.2:c.4440G>T	XP_011536382.1:p.Val1480=
XM_011538081.2:c.4437G>T	XP_011536383.1:p.Val1479=
XM_011538082.2:c.4410G>T	XP_011536384.1:p.Val1470=
XM_017019090.1:c.4437G>T	XP_016874579.1:p.Val1479=
NM_015335.5:c.4440G>T MANE Select	NP_056150.1:p.Val1480=