Canonical Allele Identifier: CA481947944

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422142T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984337T>C , CM000674.2:g.115984337T>C	GRCh38
NC_000012.11:g.116422142T>C , CM000674.1:g.116422142T>C	GRCh37
NC_000012.10:g.114906525T>C	NCBI36
NG_023366.1:g.297850A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4374A>G MANE Select	ENSP00000281928.3:p.Lys1458=
ENST00000549786.2:c.3802A>G
ENST00000648379.1:n.2742A>G
ENST00000648737.1:n.4138A>G
ENST00000648825.1:n.1114A>G
ENST00000648916.1:n.2385A>G
ENST00000649146.1:n.1104A>G
ENST00000649607.1:c.2558A>G
ENST00000649775.1:c.871A>G
ENST00000650091.1:n.2350A>G
ENST00000650226.1:c.4374A>G	ENSP00000496981.1:p.Lys1458=
ENST00000281928.7:c.4374A>G	ENSP00000281928.3:p.Lys1458=
NM_015335.4:c.4374A>G	NP_056150.1:p.Lys1458=
XM_011538080.1:c.4374A>G	XP_011536382.1:p.Lys1458=
XM_011538081.1:c.4371A>G	XP_011536383.1:p.Lys1457=
XM_011538082.1:c.4344A>G	XP_011536384.1:p.Lys1448=
XM_011538080.2:c.4374A>G	XP_011536382.1:p.Lys1458=
XM_011538081.2:c.4371A>G	XP_011536383.1:p.Lys1457=
XM_011538082.2:c.4344A>G	XP_011536384.1:p.Lys1448=
XM_017019090.1:c.4371A>G	XP_016874579.1:p.Lys1457=
NM_015335.5:c.4374A>G MANE Select	NP_056150.1:p.Lys1458=