Canonical Allele Identifier: CA481946426

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2904605
• ClinVar RCV Id: RCV003603712
• dbSNP Id: rs753488932
• MyVariant Identifiers: chr12:g.116420312C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982507C>G , CM000674.2:g.115982507C>G	GRCh38
NC_000012.11:g.116420312C>G , CM000674.1:g.116420312C>G	GRCh37
NC_000012.10:g.114904695C>G	NCBI36
NG_023366.1:g.299680G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5052G>C MANE Select	ENSP00000281928.3:p.Pro1684=
ENST00000549786.2:c.4480G>C
ENST00000648379.1:n.3420G>C
ENST00000648737.1:n.4816G>C
ENST00000648825.1:n.1792G>C
ENST00000648916.1:n.3063G>C
ENST00000649146.1:n.2295G>C
ENST00000649607.1:c.3236G>C
ENST00000649775.1:c.1541G>C
ENST00000650226.1:c.5052G>C	ENSP00000496981.1:p.Pro1684=
ENST00000281928.7:c.5052G>C	ENSP00000281928.3:p.Pro1684=
ENST00000549786.1:c.416G>C
ENST00000552340.1:c.84G>C	ENSP00000449876.1:p.Pro28=
NM_015335.4:c.5052G>C	NP_056150.1:p.Pro1684=
XM_011538080.1:c.5052G>C	XP_011536382.1:p.Pro1684=
XM_011538081.1:c.5049G>C	XP_011536383.1:p.Pro1683=
XM_011538082.1:c.5022G>C	XP_011536384.1:p.Pro1674=
XM_011538080.2:c.5052G>C	XP_011536382.1:p.Pro1684=
XM_011538081.2:c.5049G>C	XP_011536383.1:p.Pro1683=
XM_011538082.2:c.5022G>C	XP_011536384.1:p.Pro1674=
XM_017019090.1:c.5049G>C	XP_016874579.1:p.Pro1683=
NM_015335.5:c.5052G>C MANE Select	NP_056150.1:p.Pro1684=