Canonical Allele Identifier: CA6810564

Gene: MED13L

Linked Data

• dbSNP Id: rs765522411
• ExAC: 12:116413327 G / C
• gnomAD v2: 12-116413327-G-C
• gnomAD v3: 12-115975522-G-C
• gnomAD v4: 12-115975522-G-C
• MyVariant Identifiers: chr12:g.116413327G>C (hg19) ; chr12:g.115975522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975522G>C , CM000674.2:g.115975522G>C	GRCh38
NC_000012.11:g.116413327G>C , CM000674.1:g.116413327G>C	GRCh37
NC_000012.10:g.114897710G>C	NCBI36
NG_023366.1:g.306665C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5581C>G MANE Select	ENSP00000281928.3:p.Pro1861Ala
ENST00000548694.2:n.370C>G
ENST00000648379.1:n.3949C>G
ENST00000648737.1:n.5345C>G
ENST00000648825.1:n.3766C>G
ENST00000648916.1:n.3592C>G
ENST00000649607.1:c.3765C>G
ENST00000649775.1:c.2070C>G
ENST00000650226.1:c.5581C>G	ENSP00000496981.1:p.Pro1861Ala
ENST00000281928.7:c.5581C>G	ENSP00000281928.3:p.Pro1861Ala
ENST00000548694.1:n.370C>G
ENST00000552447.1:c.158C>G
NM_015335.4:c.5581C>G	NP_056150.1:p.Pro1861Ala
XM_011538080.1:c.5581C>G	XP_011536382.1:p.Pro1861Ala
XM_011538081.1:c.5578C>G	XP_011536383.1:p.Pro1860Ala
XM_011538082.1:c.5551C>G	XP_011536384.1:p.Pro1851Ala
XM_011538080.2:c.5581C>G	XP_011536382.1:p.Pro1861Ala
XM_011538081.2:c.5578C>G	XP_011536383.1:p.Pro1860Ala
XM_011538082.2:c.5551C>G	XP_011536384.1:p.Pro1851Ala
XM_017019090.1:c.5578C>G	XP_016874579.1:p.Pro1860Ala
NM_015335.5:c.5581C>G MANE Select	NP_056150.1:p.Pro1861Ala