Canonical Allele Identifier: CA16619444
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 421145
ClinVar RCV Id: RCV000480071
dbSNP Id: rs1064794939

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997167G>A , CM000674.2:g.115997167G>A GRCh38
NC_000012.11:g.116434972G>A , CM000674.1:g.116434972G>A GRCh37
NC_000012.10:g.114919355G>A NCBI36
NG_023366.1:g.285020C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.2633C>T MANE Select ENSP00000281928.3:p.Ser878Phe
ENST00000548743.2:c.2603C>T ENSP00000448553.2:p.Ser868Phe
ENST00000549786.2:c.2061C>T
ENST00000647927.1:n.3006C>T
ENST00000648173.1:n.1428C>T
ENST00000648379.1:n.1001C>T
ENST00000648737.1:n.2397C>T
ENST00000648916.1:n.644C>T
ENST00000649607.1:c.817C>T
ENST00000650226.1:c.2633C>T ENSP00000496981.1:p.Ser878Phe
ENST00000281928.7:c.2633C>T ENSP00000281928.3:p.Ser878Phe
NM_015335.4:c.2633C>T NP_056150.1:p.Ser878Phe
XM_011538080.1:c.2633C>T XP_011536382.1:p.Ser878Phe
XM_011538081.1:c.2630C>T XP_011536383.1:p.Ser877Phe
XM_011538082.1:c.2603C>T XP_011536384.1:p.Ser868Phe
XM_011538080.2:c.2633C>T XP_011536382.1:p.Ser878Phe
XM_011538081.2:c.2630C>T XP_011536383.1:p.Ser877Phe
XM_011538082.2:c.2603C>T XP_011536384.1:p.Ser868Phe
XM_017019090.1:c.2630C>T XP_016874579.1:p.Ser877Phe
NM_015335.5:c.2633C>T MANE Select NP_056150.1:p.Ser878Phe