Canonical Allele Identifier: CA244130601

Gene: MED13L

Linked Data

• dbSNP Id: rs369934604
• gnomAD v4: 12-115966059-T-G
• MyVariant Identifiers: chr12:g.116403864T>G (hg19) ; chr12:g.115966059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966059T>G , CM000674.2:g.115966059T>G	GRCh38
NC_000012.11:g.116403864T>G , CM000674.1:g.116403864T>G	GRCh37
NC_000012.10:g.114888247T>G	NCBI36
NG_023366.1:g.316128A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6387+23A>C MANE Select	ENSP00000281928.3:n.6387+23A>C
ENST00000548784.2:n.2601+23A>C
ENST00000648379.1:n.4755+23A>C
ENST00000648737.1:n.6151+23A>C
ENST00000648762.1:n.1077+23A>C
ENST00000648825.1:n.4572+23A>C
ENST00000648916.1:n.4398+23A>C
ENST00000649607.1:c.4571+23A>C
ENST00000649775.1:c.2718+23A>C
ENST00000650226.1:c.6423+23A>C	ENSP00000496981.1:n.6423+23A>C
ENST00000281928.7:c.6387+23A>C	ENSP00000281928.3:n.6387+23A>C
NM_015335.4:c.6387+23A>C	NP_056150.1:n.6387+23A>C
XM_011538080.1:c.6423+23A>C	XP_011536382.1:n.6423+23A>C
XM_011538081.1:c.6420+23A>C	XP_011536383.1:n.6420+23A>C
XM_011538082.1:c.6393+23A>C	XP_011536384.1:n.6393+23A>C
XM_011538080.2:c.6423+23A>C	XP_011536382.1:n.6423+23A>C
XM_011538081.2:c.6420+23A>C	XP_011536383.1:n.6420+23A>C
XM_011538082.2:c.6393+23A>C	XP_011536384.1:n.6393+23A>C
XM_017019090.1:c.6384+23A>C	XP_016874579.1:n.6384+23A>C
NM_015335.5:c.6387+23A>C MANE Select	NP_056150.1:n.6387+23A>C