Canonical Allele Identifier: CA6811001
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 415969
ClinVar RCV Id: RCV000457943
dbSNP Id: rs145072799

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115991681G>A , CM000674.2:g.115991681G>A GRCh38
NC_000012.11:g.116429486G>A , CM000674.1:g.116429486G>A GRCh37
NC_000012.10:g.114913869G>A NCBI36
NG_023366.1:g.290506C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.3273C>T MANE Select ENSP00000281928.3:p.Pro1091=
ENST00000548743.2:c.3243C>T ENSP00000448553.2:p.Pro1081=
ENST00000549786.2:c.2701C>T
ENST00000648379.1:n.1641C>T
ENST00000648737.1:n.3037C>T
ENST00000648825.1:n.13C>T
ENST00000648916.1:n.1284C>T
ENST00000649607.1:c.1457C>T
ENST00000650226.1:c.3273C>T ENSP00000496981.1:p.Pro1091=
ENST00000281928.7:c.3273C>T ENSP00000281928.3:p.Pro1091=
NM_015335.4:c.3273C>T NP_056150.1:p.Pro1091=
XM_011538080.1:c.3273C>T XP_011536382.1:p.Pro1091=
XM_011538081.1:c.3270C>T XP_011536383.1:p.Pro1090=
XM_011538082.1:c.3243C>T XP_011536384.1:p.Pro1081=
XM_011538080.2:c.3273C>T XP_011536382.1:p.Pro1091=
XM_011538081.2:c.3270C>T XP_011536383.1:p.Pro1090=
XM_011538082.2:c.3243C>T XP_011536384.1:p.Pro1081=
XM_017019090.1:c.3270C>T XP_016874579.1:p.Pro1090=
NM_015335.5:c.3273C>T MANE Select NP_056150.1:p.Pro1091=