Canonical Allele Identifier: CA684018414

Gene: MED13L

Linked Data

• dbSNP Id: rs1195005957
• MyVariant Identifiers: chr12:g.116420667G>C (hg19) ; chr12:g.115982862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982862G>C , CM000674.2:g.115982862G>C	GRCh38
NC_000012.11:g.116420667G>C , CM000674.1:g.116420667G>C	GRCh37
NC_000012.10:g.114905050G>C	NCBI36
NG_023366.1:g.299325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+255C>G MANE Select	ENSP00000281928.3:n.4955+255C>G
ENST00000549786.2:c.4383+255C>G
ENST00000648379.1:n.3323+255C>G
ENST00000648737.1:n.4719+255C>G
ENST00000648825.1:n.1695+255C>G
ENST00000648916.1:n.2966+255C>G
ENST00000649146.1:n.1940C>G
ENST00000649607.1:c.3139+255C>G
ENST00000649775.1:c.1452+255C>G
ENST00000650226.1:c.4955+255C>G	ENSP00000496981.1:n.4955+255C>G
ENST00000281928.7:c.4955+255C>G	ENSP00000281928.3:n.4955+255C>G
ENST00000549786.1:c.319+255C>G
NM_015335.4:c.4955+255C>G	NP_056150.1:n.4955+255C>G
XM_011538080.1:c.4955+255C>G	XP_011536382.1:n.4955+255C>G
XM_011538081.1:c.4952+255C>G	XP_011536383.1:n.4952+255C>G
XM_011538082.1:c.4925+255C>G	XP_011536384.1:n.4925+255C>G
XM_011538080.2:c.4955+255C>G	XP_011536382.1:n.4955+255C>G
XM_011538081.2:c.4952+255C>G	XP_011536383.1:n.4952+255C>G
XM_011538082.2:c.4925+255C>G	XP_011536384.1:n.4925+255C>G
XM_017019090.1:c.4952+255C>G	XP_016874579.1:n.4952+255C>G
NM_015335.5:c.4955+255C>G MANE Select	NP_056150.1:n.4955+255C>G