Canonical Allele Identifier: CA386881156

Gene: MED13L

Linked Data

• dbSNP Id: rs1877394265
• gnomAD v3: 12-115982462-C-A
• gnomAD v4: 12-115982462-C-A
• MyVariant Identifiers: chr12:g.116420267C>A (hg19) ; chr12:g.115982462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982462C>A , CM000674.2:g.115982462C>A	GRCh38
NC_000012.11:g.116420267C>A , CM000674.1:g.116420267C>A	GRCh37
NC_000012.10:g.114904650C>A	NCBI36
NG_023366.1:g.299725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5097G>T MANE Select	ENSP00000281928.3:p.Trp1699Cys
ENST00000549786.2:c.4525G>T
ENST00000648379.1:n.3465G>T
ENST00000648737.1:n.4861G>T
ENST00000648825.1:n.1837G>T
ENST00000648916.1:n.3108G>T
ENST00000649146.1:n.2340G>T
ENST00000649607.1:c.3281G>T
ENST00000649775.1:c.1586G>T
ENST00000650226.1:c.5097G>T	ENSP00000496981.1:p.Trp1699Cys
ENST00000281928.7:c.5097G>T	ENSP00000281928.3:p.Trp1699Cys
ENST00000549786.1:c.461G>T
ENST00000552340.1:c.129G>T	ENSP00000449876.1:p.Trp43Cys
NM_015335.4:c.5097G>T	NP_056150.1:p.Trp1699Cys
XM_011538080.1:c.5097G>T	XP_011536382.1:p.Trp1699Cys
XM_011538081.1:c.5094G>T	XP_011536383.1:p.Trp1698Cys
XM_011538082.1:c.5067G>T	XP_011536384.1:p.Trp1689Cys
XM_011538080.2:c.5097G>T	XP_011536382.1:p.Trp1699Cys
XM_011538081.2:c.5094G>T	XP_011536383.1:p.Trp1698Cys
XM_011538082.2:c.5067G>T	XP_011536384.1:p.Trp1689Cys
XM_017019090.1:c.5094G>T	XP_016874579.1:p.Trp1698Cys
NM_015335.5:c.5097G>T MANE Select	NP_056150.1:p.Trp1699Cys