Canonical Allele Identifier: CA2602971164

Gene: MED13L

Linked Data

• dbSNP Id: rs930360812
• gnomAD v3: 12-115982873-T-G
• gnomAD v4: 12-115982873-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982873T>G , CM000674.2:g.115982873T>G	GRCh38
NC_000012.11:g.116420678T>G , CM000674.1:g.116420678T>G	GRCh37
NC_000012.10:g.114905061T>G	NCBI36
NG_023366.1:g.299314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+244A>C MANE Select	ENSP00000281928.3:n.4955+244A>C
ENST00000549786.2:c.4383+244A>C
ENST00000648379.1:n.3323+244A>C
ENST00000648737.1:n.4719+244A>C
ENST00000648825.1:n.1695+244A>C
ENST00000648916.1:n.2966+244A>C
ENST00000649146.1:n.1929A>C
ENST00000649607.1:c.3139+244A>C
ENST00000649775.1:c.1452+244A>C
ENST00000650226.1:c.4955+244A>C	ENSP00000496981.1:n.4955+244A>C
ENST00000281928.7:c.4955+244A>C	ENSP00000281928.3:n.4955+244A>C
ENST00000549786.1:c.319+244A>C
NM_015335.4:c.4955+244A>C	NP_056150.1:n.4955+244A>C
XM_011538080.1:c.4955+244A>C	XP_011536382.1:n.4955+244A>C
XM_011538081.1:c.4952+244A>C	XP_011536383.1:n.4952+244A>C
XM_011538082.1:c.4925+244A>C	XP_011536384.1:n.4925+244A>C
XM_011538080.2:c.4955+244A>C	XP_011536382.1:n.4955+244A>C
XM_011538081.2:c.4952+244A>C	XP_011536383.1:n.4952+244A>C
XM_011538082.2:c.4925+244A>C	XP_011536384.1:n.4925+244A>C
XM_017019090.1:c.4952+244A>C	XP_016874579.1:n.4952+244A>C
NM_015335.5:c.4955+244A>C MANE Select	NP_056150.1:n.4955+244A>C