Canonical Allele Identifier: CA6810384

Gene: MED13L

Linked Data

• dbSNP Id: rs77532649
• ExAC: 12:116403840 G / A
• gnomAD v2: 12-116403840-G-A
• gnomAD v3: 12-115966035-G-A
• gnomAD v4: 12-115966035-G-A
• MyVariant Identifiers: chr12:g.116403840G>A (hg19) ; chr12:g.115966035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966035G>A , CM000674.2:g.115966035G>A	GRCh38
NC_000012.11:g.116403840G>A , CM000674.1:g.116403840G>A	GRCh37
NC_000012.10:g.114888223G>A	NCBI36
NG_023366.1:g.316152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6387+47C>T MANE Select	ENSP00000281928.3:n.6387+47C>T
ENST00000548784.2:n.2601+47C>T
ENST00000648379.1:n.4755+47C>T
ENST00000648737.1:n.6151+47C>T
ENST00000648762.1:n.1077+47C>T
ENST00000648825.1:n.4572+47C>T
ENST00000648916.1:n.4398+47C>T
ENST00000649607.1:c.4571+47C>T
ENST00000649775.1:c.2718+47C>T
ENST00000650226.1:c.6423+47C>T	ENSP00000496981.1:n.6423+47C>T
ENST00000281928.7:c.6387+47C>T	ENSP00000281928.3:n.6387+47C>T
NM_015335.4:c.6387+47C>T	NP_056150.1:n.6387+47C>T
XM_011538080.1:c.6423+47C>T	XP_011536382.1:n.6423+47C>T
XM_011538081.1:c.6420+47C>T	XP_011536383.1:n.6420+47C>T
XM_011538082.1:c.6393+47C>T	XP_011536384.1:n.6393+47C>T
XM_011538080.2:c.6423+47C>T	XP_011536382.1:n.6423+47C>T
XM_011538081.2:c.6420+47C>T	XP_011536383.1:n.6420+47C>T
XM_011538082.2:c.6393+47C>T	XP_011536384.1:n.6393+47C>T
XM_017019090.1:c.6384+47C>T	XP_016874579.1:n.6384+47C>T
NM_015335.5:c.6387+47C>T MANE Select	NP_056150.1:n.6387+47C>T