Canonical Allele Identifier: CA6810811

Gene: MED13L

Linked Data

• dbSNP Id: rs757919222
• ExAC: 12:116422177 T / C
• gnomAD v2: 12-116422177-T-C
• MyVariant Identifiers: chr12:g.116422177T>C (hg19) ; chr12:g.115984372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984372T>C , CM000674.2:g.115984372T>C	GRCh38
NC_000012.11:g.116422177T>C , CM000674.1:g.116422177T>C	GRCh37
NC_000012.10:g.114906560T>C	NCBI36
NG_023366.1:g.297815A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339A>G MANE Select	ENSP00000281928.3:p.Met1447Val
ENST00000549786.2:c.3767A>G
ENST00000648379.1:n.2707A>G
ENST00000648737.1:n.4103A>G
ENST00000648825.1:n.1079A>G
ENST00000648916.1:n.2350A>G
ENST00000649146.1:n.1069A>G
ENST00000649607.1:c.2523A>G
ENST00000649775.1:c.836A>G
ENST00000650091.1:n.2315A>G
ENST00000650226.1:c.4339A>G	ENSP00000496981.1:p.Met1447Val
ENST00000281928.7:c.4339A>G	ENSP00000281928.3:p.Met1447Val
NM_015335.4:c.4339A>G	NP_056150.1:p.Met1447Val
XM_011538080.1:c.4339A>G	XP_011536382.1:p.Met1447Val
XM_011538081.1:c.4336A>G	XP_011536383.1:p.Met1446Val
XM_011538082.1:c.4309A>G	XP_011536384.1:p.Met1437Val
XM_011538080.2:c.4339A>G	XP_011536382.1:p.Met1447Val
XM_011538081.2:c.4336A>G	XP_011536383.1:p.Met1446Val
XM_011538082.2:c.4309A>G	XP_011536384.1:p.Met1437Val
XM_017019090.1:c.4336A>G	XP_016874579.1:p.Met1446Val
NM_015335.5:c.4339A>G MANE Select	NP_056150.1:p.Met1447Val