Canonical Allele Identifier: CA386881111

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982440A>G , CM000674.2:g.115982440A>G	GRCh38
NC_000012.11:g.116420245A>G , CM000674.1:g.116420245A>G	GRCh37
NC_000012.10:g.114904628A>G	NCBI36
NG_023366.1:g.299747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5119T>C MANE Select	ENSP00000281928.3:p.Tyr1707His
ENST00000549786.2:c.4547T>C
ENST00000648379.1:n.3487T>C
ENST00000648737.1:n.4883T>C
ENST00000648825.1:n.1859T>C
ENST00000648916.1:n.3130T>C
ENST00000649146.1:n.2362T>C
ENST00000649607.1:c.3303T>C
ENST00000649775.1:c.1608T>C
ENST00000650226.1:c.5119T>C	ENSP00000496981.1:p.Tyr1707His
ENST00000281928.7:c.5119T>C	ENSP00000281928.3:p.Tyr1707His
ENST00000549786.1:c.483T>C
ENST00000552340.1:c.151T>C	ENSP00000449876.1:p.Tyr51His
NM_015335.4:c.5119T>C	NP_056150.1:p.Tyr1707His
XM_011538080.1:c.5119T>C	XP_011536382.1:p.Tyr1707His
XM_011538081.1:c.5116T>C	XP_011536383.1:p.Tyr1706His
XM_011538082.1:c.5089T>C	XP_011536384.1:p.Tyr1697His
XM_011538080.2:c.5119T>C	XP_011536382.1:p.Tyr1707His
XM_011538081.2:c.5116T>C	XP_011536383.1:p.Tyr1706His
XM_011538082.2:c.5089T>C	XP_011536384.1:p.Tyr1697His
XM_017019090.1:c.5116T>C	XP_016874579.1:p.Tyr1706His
NM_015335.5:c.5119T>C MANE Select	NP_056150.1:p.Tyr1707His