Canonical Allele Identifier: CA6810819

Gene: MED13L

Linked Data

• dbSNP Id: rs746360507
• ExAC: 12:116422194 G / A
• gnomAD v2: 12-116422194-G-A
• gnomAD v4: 12-115984389-G-A
• MyVariant Identifiers: chr12:g.116422194G>A (hg19) ; chr12:g.115984389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984389G>A , CM000674.2:g.115984389G>A	GRCh38
NC_000012.11:g.116422194G>A , CM000674.1:g.116422194G>A	GRCh37
NC_000012.10:g.114906577G>A	NCBI36
NG_023366.1:g.297798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-17C>T MANE Select	ENSP00000281928.3:n.4339-17C>T
ENST00000549786.2:c.3767-17C>T
ENST00000648379.1:n.2707-17C>T
ENST00000648737.1:n.4103-17C>T
ENST00000648825.1:n.1079-17C>T
ENST00000648916.1:n.2350-17C>T
ENST00000649146.1:n.1052C>T
ENST00000649607.1:c.2523-17C>T
ENST00000649775.1:c.836-17C>T
ENST00000650091.1:n.2315-17C>T
ENST00000650226.1:c.4339-17C>T	ENSP00000496981.1:n.4339-17C>T
ENST00000281928.7:c.4339-17C>T	ENSP00000281928.3:n.4339-17C>T
NM_015335.4:c.4339-17C>T	NP_056150.1:n.4339-17C>T
XM_011538080.1:c.4339-17C>T	XP_011536382.1:n.4339-17C>T
XM_011538081.1:c.4336-17C>T	XP_011536383.1:n.4336-17C>T
XM_011538082.1:c.4309-17C>T	XP_011536384.1:n.4309-17C>T
XM_011538080.2:c.4339-17C>T	XP_011536382.1:n.4339-17C>T
XM_011538081.2:c.4336-17C>T	XP_011536383.1:n.4336-17C>T
XM_011538082.2:c.4309-17C>T	XP_011536384.1:n.4309-17C>T
XM_017019090.1:c.4336-17C>T	XP_016874579.1:n.4336-17C>T
NM_015335.5:c.4339-17C>T MANE Select	NP_056150.1:n.4339-17C>T