Canonical Allele Identifier: CA386889134

Gene: MED13L

Linked Data

• dbSNP Id: rs1393485848
• gnomAD v2: 12-116429737-C-T
• gnomAD v4: 12-115991932-C-T
• MyVariant Identifiers: chr12:g.116429737C>T (hg19) ; chr12:g.115991932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991932C>T , CM000674.2:g.115991932C>T	GRCh38
NC_000012.11:g.116429737C>T , CM000674.1:g.116429737C>T	GRCh37
NC_000012.10:g.114914120C>T	NCBI36
NG_023366.1:g.290255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3022G>A MANE Select	ENSP00000281928.3:p.Ala1008Thr
ENST00000548743.2:c.2992G>A	ENSP00000448553.2:p.Ala998Thr
ENST00000549786.2:c.2450G>A
ENST00000648173.1:n.1817G>A
ENST00000648379.1:n.1390G>A
ENST00000648737.1:n.2786G>A
ENST00000648916.1:n.1033G>A
ENST00000649607.1:c.1206G>A
ENST00000650226.1:c.3022G>A	ENSP00000496981.1:p.Ala1008Thr
ENST00000281928.7:c.3022G>A	ENSP00000281928.3:p.Ala1008Thr
NM_015335.4:c.3022G>A	NP_056150.1:p.Ala1008Thr
XM_011538080.1:c.3022G>A	XP_011536382.1:p.Ala1008Thr
XM_011538081.1:c.3019G>A	XP_011536383.1:p.Ala1007Thr
XM_011538082.1:c.2992G>A	XP_011536384.1:p.Ala998Thr
XM_011538080.2:c.3022G>A	XP_011536382.1:p.Ala1008Thr
XM_011538081.2:c.3019G>A	XP_011536383.1:p.Ala1007Thr
XM_011538082.2:c.2992G>A	XP_011536384.1:p.Ala998Thr
XM_017019090.1:c.3019G>A	XP_016874579.1:p.Ala1007Thr
NM_015335.5:c.3022G>A MANE Select	NP_056150.1:p.Ala1008Thr