Canonical Allele Identifier: CA16603168
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 376790
ClinVar RCV Id: RCV000427272
dbSNP Id: rs1057520056

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997209A>T , CM000674.2:g.115997209A>T GRCh38
NC_000012.11:g.116435014A>T , CM000674.1:g.116435014A>T GRCh37
NC_000012.10:g.114919397A>T NCBI36
NG_023366.1:g.284978T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.2591T>A MANE Select ENSP00000281928.3:p.Met864Lys
ENST00000548743.2:c.2561T>A ENSP00000448553.2:p.Met854Lys
ENST00000549786.2:c.2019T>A
ENST00000647927.1:n.2964T>A
ENST00000648173.1:n.1386T>A
ENST00000648379.1:n.959T>A
ENST00000648737.1:n.2355T>A
ENST00000648916.1:n.602T>A
ENST00000649607.1:c.775T>A
ENST00000650226.1:c.2591T>A ENSP00000496981.1:p.Met864Lys
ENST00000281928.7:c.2591T>A ENSP00000281928.3:p.Met864Lys
NM_015335.4:c.2591T>A NP_056150.1:p.Met864Lys
XM_011538080.1:c.2591T>A XP_011536382.1:p.Met864Lys
XM_011538081.1:c.2588T>A XP_011536383.1:p.Met863Lys
XM_011538082.1:c.2561T>A XP_011536384.1:p.Met854Lys
XM_011538080.2:c.2591T>A XP_011536382.1:p.Met864Lys
XM_011538081.2:c.2588T>A XP_011536383.1:p.Met863Lys
XM_011538082.2:c.2561T>A XP_011536384.1:p.Met854Lys
XM_017019090.1:c.2588T>A XP_016874579.1:p.Met863Lys
NM_015335.5:c.2591T>A MANE Select NP_056150.1:p.Met864Lys