Canonical Allele Identifier: CA6811004

Gene: MED13L

Linked Data

• dbSNP Id: rs765954704
• ExAC: 12:116429502 G / C
• gnomAD v2: 12-116429502-G-C
• gnomAD v3: 12-115991697-G-C
• gnomAD v4: 12-115991697-G-C
• MyVariant Identifiers: chr12:g.116429502G>C (hg19) ; chr12:g.115991697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991697G>C , CM000674.2:g.115991697G>C	GRCh38
NC_000012.11:g.116429502G>C , CM000674.1:g.116429502G>C	GRCh37
NC_000012.10:g.114913885G>C	NCBI36
NG_023366.1:g.290490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3257C>G MANE Select	ENSP00000281928.3:p.Pro1086Arg
ENST00000548743.2:c.3227C>G	ENSP00000448553.2:p.Pro1076Arg
ENST00000549786.2:c.2685C>G
ENST00000648173.1:n.2052C>G
ENST00000648379.1:n.1625C>G
ENST00000648737.1:n.3021C>G
ENST00000648916.1:n.1268C>G
ENST00000649607.1:c.1441C>G
ENST00000650226.1:c.3257C>G	ENSP00000496981.1:p.Pro1086Arg
ENST00000281928.7:c.3257C>G	ENSP00000281928.3:p.Pro1086Arg
NM_015335.4:c.3257C>G	NP_056150.1:p.Pro1086Arg
XM_011538080.1:c.3257C>G	XP_011536382.1:p.Pro1086Arg
XM_011538081.1:c.3254C>G	XP_011536383.1:p.Pro1085Arg
XM_011538082.1:c.3227C>G	XP_011536384.1:p.Pro1076Arg
XM_011538080.2:c.3257C>G	XP_011536382.1:p.Pro1086Arg
XM_011538081.2:c.3254C>G	XP_011536383.1:p.Pro1085Arg
XM_011538082.2:c.3227C>G	XP_011536384.1:p.Pro1076Arg
XM_017019090.1:c.3254C>G	XP_016874579.1:p.Pro1085Arg
NM_015335.5:c.3257C>G MANE Select	NP_056150.1:p.Pro1086Arg