Canonical Allele Identifier: CA386889102

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429723A>C (hg19) ; chr12:g.115991918A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991918A>C , CM000674.2:g.115991918A>C	GRCh38
NC_000012.11:g.116429723A>C , CM000674.1:g.116429723A>C	GRCh37
NC_000012.10:g.114914106A>C	NCBI36
NG_023366.1:g.290269T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3036T>G MANE Select	ENSP00000281928.3:p.Tyr1012Ter
ENST00000548743.2:c.3006T>G	ENSP00000448553.2:p.Tyr1002Ter
ENST00000549786.2:c.2464T>G
ENST00000648173.1:n.1831T>G
ENST00000648379.1:n.1404T>G
ENST00000648737.1:n.2800T>G
ENST00000648916.1:n.1047T>G
ENST00000649607.1:c.1220T>G
ENST00000650226.1:c.3036T>G	ENSP00000496981.1:p.Tyr1012Ter
ENST00000281928.7:c.3036T>G	ENSP00000281928.3:p.Tyr1012Ter
NM_015335.4:c.3036T>G	NP_056150.1:p.Tyr1012Ter
XM_011538080.1:c.3036T>G	XP_011536382.1:p.Tyr1012Ter
XM_011538081.1:c.3033T>G	XP_011536383.1:p.Tyr1011Ter
XM_011538082.1:c.3006T>G	XP_011536384.1:p.Tyr1002Ter
XM_011538080.2:c.3036T>G	XP_011536382.1:p.Tyr1012Ter
XM_011538081.2:c.3033T>G	XP_011536383.1:p.Tyr1011Ter
XM_011538082.2:c.3006T>G	XP_011536384.1:p.Tyr1002Ter
XM_017019090.1:c.3033T>G	XP_016874579.1:p.Tyr1011Ter
NM_015335.5:c.3036T>G MANE Select	NP_056150.1:p.Tyr1012Ter