Canonical Allele Identifier: CA481945252

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975613A>G , CM000674.2:g.115975613A>G	GRCh38
NC_000012.11:g.116413418A>G , CM000674.1:g.116413418A>G	GRCh37
NC_000012.10:g.114897801A>G	NCBI36
NG_023366.1:g.306574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5490T>C MANE Select	ENSP00000281928.3:p.Tyr1830=
ENST00000548694.2:n.279T>C
ENST00000648379.1:n.3858T>C
ENST00000648737.1:n.5254T>C
ENST00000648825.1:n.3675T>C
ENST00000648916.1:n.3501T>C
ENST00000649607.1:c.3674T>C
ENST00000649775.1:c.1979T>C
ENST00000650226.1:c.5490T>C	ENSP00000496981.1:p.Tyr1830=
ENST00000281928.7:c.5490T>C	ENSP00000281928.3:p.Tyr1830=
ENST00000548694.1:n.279T>C
ENST00000552447.1:c.67T>C
NM_015335.4:c.5490T>C	NP_056150.1:p.Tyr1830=
XM_011538080.1:c.5490T>C	XP_011536382.1:p.Tyr1830=
XM_011538081.1:c.5487T>C	XP_011536383.1:p.Tyr1829=
XM_011538082.1:c.5460T>C	XP_011536384.1:p.Tyr1820=
XM_011538080.2:c.5490T>C	XP_011536382.1:p.Tyr1830=
XM_011538081.2:c.5487T>C	XP_011536383.1:p.Tyr1829=
XM_011538082.2:c.5460T>C	XP_011536384.1:p.Tyr1820=
XM_017019090.1:c.5487T>C	XP_016874579.1:p.Tyr1829=
NM_015335.5:c.5490T>C MANE Select	NP_056150.1:p.Tyr1830=