Canonical Allele Identifier: CA6810388

Gene: MED13L

Linked Data

• dbSNP Id: rs774845452
• ExAC: 12:116403848 C / T
• gnomAD v2: 12-116403848-C-T
• gnomAD v3: 12-115966043-C-T
• gnomAD v4: 12-115966043-C-T
• MyVariant Identifiers: chr12:g.116403848C>T (hg19) ; chr12:g.115966043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966043C>T , CM000674.2:g.115966043C>T	GRCh38
NC_000012.11:g.116403848C>T , CM000674.1:g.116403848C>T	GRCh37
NC_000012.10:g.114888231C>T	NCBI36
NG_023366.1:g.316144G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6387+39G>A MANE Select	ENSP00000281928.3:n.6387+39G>A
ENST00000548784.2:n.2601+39G>A
ENST00000648379.1:n.4755+39G>A
ENST00000648737.1:n.6151+39G>A
ENST00000648762.1:n.1077+39G>A
ENST00000648825.1:n.4572+39G>A
ENST00000648916.1:n.4398+39G>A
ENST00000649607.1:c.4571+39G>A
ENST00000649775.1:c.2718+39G>A
ENST00000650226.1:c.6423+39G>A	ENSP00000496981.1:n.6423+39G>A
ENST00000281928.7:c.6387+39G>A	ENSP00000281928.3:n.6387+39G>A
NM_015335.4:c.6387+39G>A	NP_056150.1:n.6387+39G>A
XM_011538080.1:c.6423+39G>A	XP_011536382.1:n.6423+39G>A
XM_011538081.1:c.6420+39G>A	XP_011536383.1:n.6420+39G>A
XM_011538082.1:c.6393+39G>A	XP_011536384.1:n.6393+39G>A
XM_011538080.2:c.6423+39G>A	XP_011536382.1:n.6423+39G>A
XM_011538081.2:c.6420+39G>A	XP_011536383.1:n.6420+39G>A
XM_011538082.2:c.6393+39G>A	XP_011536384.1:n.6393+39G>A
XM_017019090.1:c.6384+39G>A	XP_016874579.1:n.6384+39G>A
NM_015335.5:c.6387+39G>A MANE Select	NP_056150.1:n.6387+39G>A