Canonical Allele Identifier: CA16619443
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 421338
ClinVar RCV Id: RCV000483885
dbSNP Id: rs1064795068
MyVariant Identifiers: chr12:g.116434969G>A (hg19) chr12:g.115997164G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115997164G>A , CM000674.2:g.115997164G>A GRCh38
NC_000012.11:g.116434969G>A , CM000674.1:g.116434969G>A GRCh37
NC_000012.10:g.114919352G>A NCBI36
NG_023366.1:g.285023C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.2636C>T MANE Select ENSP00000281928.3:p.Pro879Leu
ENST00000548743.2:c.2606C>T ENSP00000448553.2:p.Pro869Leu
ENST00000549786.2:c.2064C>T
ENST00000647927.1:n.3009C>T
ENST00000648173.1:n.1431C>T
ENST00000648379.1:n.1004C>T
ENST00000648737.1:n.2400C>T
ENST00000648916.1:n.647C>T
ENST00000649607.1:c.820C>T
ENST00000650226.1:c.2636C>T ENSP00000496981.1:p.Pro879Leu
ENST00000281928.7:c.2636C>T ENSP00000281928.3:p.Pro879Leu
NM_015335.4:c.2636C>T NP_056150.1:p.Pro879Leu
XM_011538080.1:c.2636C>T XP_011536382.1:p.Pro879Leu
XM_011538081.1:c.2633C>T XP_011536383.1:p.Pro878Leu
XM_011538082.1:c.2606C>T XP_011536384.1:p.Pro869Leu
XM_011538080.2:c.2636C>T XP_011536382.1:p.Pro879Leu
XM_011538081.2:c.2633C>T XP_011536383.1:p.Pro878Leu
XM_011538082.2:c.2606C>T XP_011536384.1:p.Pro869Leu
XM_017019090.1:c.2633C>T XP_016874579.1:p.Pro878Leu
NM_015335.5:c.2636C>T MANE Select NP_056150.1:p.Pro879Leu
Search 100 bp 5'
Search 100 bp 3'