Canonical Allele Identifier: CA6811094
Gene: MED13L HGNC NCBI

Linked Data

dbSNP Id: rs780099245

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115996671T>A , CM000674.2:g.115996671T>A GRCh38
NC_000012.11:g.116434476T>A , CM000674.1:g.116434476T>A GRCh37
NC_000012.10:g.114918859T>A NCBI36
NG_023366.1:g.285516A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.2801A>T MANE Select ENSP00000281928.3:p.Tyr934Phe
ENST00000548743.2:c.2771A>T ENSP00000448553.2:p.Tyr924Phe
ENST00000549786.2:c.2229A>T
ENST00000647927.1:n.3174A>T
ENST00000648173.1:n.1596A>T
ENST00000648379.1:n.1169A>T
ENST00000648737.1:n.2565A>T
ENST00000648916.1:n.812A>T
ENST00000649607.1:c.985A>T
ENST00000650226.1:c.2801A>T ENSP00000496981.1:p.Tyr934Phe
ENST00000281928.7:c.2801A>T ENSP00000281928.3:p.Tyr934Phe
NM_015335.4:c.2801A>T NP_056150.1:p.Tyr934Phe
XM_011538080.1:c.2801A>T XP_011536382.1:p.Tyr934Phe
XM_011538081.1:c.2798A>T XP_011536383.1:p.Tyr933Phe
XM_011538082.1:c.2771A>T XP_011536384.1:p.Tyr924Phe
XM_011538080.2:c.2801A>T XP_011536382.1:p.Tyr934Phe
XM_011538081.2:c.2798A>T XP_011536383.1:p.Tyr933Phe
XM_011538082.2:c.2771A>T XP_011536384.1:p.Tyr924Phe
XM_017019090.1:c.2798A>T XP_016874579.1:p.Tyr933Phe
NM_015335.5:c.2801A>T MANE Select NP_056150.1:p.Tyr934Phe