Canonical Allele Identifier: CA16607099
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 392058
ClinVar RCV Id: RCV000440181
dbSNP Id: rs1057524341
MyVariant Identifiers: chr12:g.116424977G>A (hg19) chr12:g.115987172G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115987172G>A , CM000674.2:g.115987172G>A GRCh38
NC_000012.11:g.116424977G>A , CM000674.1:g.116424977G>A GRCh37
NC_000012.10:g.114909360G>A NCBI36
NG_023366.1:g.295015C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.4051C>T MANE Select ENSP00000281928.3:p.Gln1351Ter
ENST00000549786.2:c.3479C>T
ENST00000648379.1:n.2419C>T
ENST00000648737.1:n.3815C>T
ENST00000648825.1:n.791C>T
ENST00000648916.1:n.2062C>T
ENST00000649607.1:c.2235C>T
ENST00000649775.1:c.548C>T
ENST00000650091.1:n.1408C>T
ENST00000650226.1:c.4051C>T ENSP00000496981.1:p.Gln1351Ter
ENST00000281928.7:c.4051C>T ENSP00000281928.3:p.Gln1351Ter
NM_015335.4:c.4051C>T NP_056150.1:p.Gln1351Ter
XM_011538080.1:c.4051C>T XP_011536382.1:p.Gln1351Ter
XM_011538081.1:c.4048C>T XP_011536383.1:p.Gln1350Ter
XM_011538082.1:c.4021C>T XP_011536384.1:p.Gln1341Ter
XM_011538080.2:c.4051C>T XP_011536382.1:p.Gln1351Ter
XM_011538081.2:c.4048C>T XP_011536383.1:p.Gln1350Ter
XM_011538082.2:c.4021C>T XP_011536384.1:p.Gln1341Ter
XM_017019090.1:c.4048C>T XP_016874579.1:p.Gln1350Ter
NM_015335.5:c.4051C>T MANE Select NP_056150.1:p.Gln1351Ter
Search 100 bp 5'
Search 100 bp 3'