Canonical Allele Identifier: CA2621143157

Gene: MED13L

Linked Data

• gnomAD v4: 12-115966065-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966065T>C , CM000674.2:g.115966065T>C	GRCh38
NC_000012.11:g.116403870T>C , CM000674.1:g.116403870T>C	GRCh37
NC_000012.10:g.114888253T>C	NCBI36
NG_023366.1:g.316122A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6387+17A>G MANE Select	ENSP00000281928.3:n.6387+17A>G
ENST00000548784.2:n.2601+17A>G
ENST00000648379.1:n.4755+17A>G
ENST00000648737.1:n.6151+17A>G
ENST00000648762.1:n.1077+17A>G
ENST00000648825.1:n.4572+17A>G
ENST00000648916.1:n.4398+17A>G
ENST00000649607.1:c.4571+17A>G
ENST00000649775.1:c.2718+17A>G
ENST00000650226.1:c.6423+17A>G	ENSP00000496981.1:n.6423+17A>G
ENST00000281928.7:c.6387+17A>G	ENSP00000281928.3:n.6387+17A>G
NM_015335.4:c.6387+17A>G	NP_056150.1:n.6387+17A>G
XM_011538080.1:c.6423+17A>G	XP_011536382.1:n.6423+17A>G
XM_011538081.1:c.6420+17A>G	XP_011536383.1:n.6420+17A>G
XM_011538082.1:c.6393+17A>G	XP_011536384.1:n.6393+17A>G
XM_011538080.2:c.6423+17A>G	XP_011536382.1:n.6423+17A>G
XM_011538081.2:c.6420+17A>G	XP_011536383.1:n.6420+17A>G
XM_011538082.2:c.6393+17A>G	XP_011536384.1:n.6393+17A>G
XM_017019090.1:c.6384+17A>G	XP_016874579.1:n.6384+17A>G
NM_015335.5:c.6387+17A>G MANE Select	NP_056150.1:n.6387+17A>G