Canonical Allele Identifier: CA607650511

Gene: MED13L

Linked Data

• dbSNP Id: rs1421089229
• gnomAD v2: 12-116413136-G-A
• MyVariant Identifiers: chr12:g.116413136G>A (hg19) ; chr12:g.115975331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975331G>A , CM000674.2:g.115975331G>A	GRCh38
NC_000012.11:g.116413136G>A , CM000674.1:g.116413136G>A	GRCh37
NC_000012.10:g.114897519G>A	NCBI36
NG_023366.1:g.306856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5589-18C>T MANE Select	ENSP00000281928.3:n.5589-18C>T
ENST00000548694.2:n.561C>T
ENST00000648379.1:n.3957-18C>T
ENST00000648737.1:n.5353-18C>T
ENST00000648825.1:n.3774-18C>T
ENST00000648916.1:n.3600-18C>T
ENST00000649607.1:c.3773-18C>T
ENST00000649775.1:c.2078-18C>T
ENST00000650226.1:c.5607C>T	ENSP00000496981.1:p.Pro1869=
ENST00000281928.7:c.5589-18C>T	ENSP00000281928.3:n.5589-18C>T
ENST00000548694.1:n.561C>T
ENST00000552447.1:c.184C>T
NM_015335.4:c.5589-18C>T	NP_056150.1:n.5589-18C>T
XM_011538080.1:c.5607C>T	XP_011536382.1:p.Pro1869=
XM_011538081.1:c.5604C>T	XP_011536383.1:p.Pro1868=
XM_011538082.1:c.5577C>T	XP_011536384.1:p.Pro1859=
XM_011538080.2:c.5607C>T	XP_011536382.1:p.Pro1869=
XM_011538081.2:c.5604C>T	XP_011536383.1:p.Pro1868=
XM_011538082.2:c.5577C>T	XP_011536384.1:p.Pro1859=
XM_017019090.1:c.5586-18C>T	XP_016874579.1:n.5586-18C>T
NM_015335.5:c.5589-18C>T MANE Select	NP_056150.1:n.5589-18C>T