Canonical Allele Identifier: CA386881107

Gene: MED13L

Linked Data

• dbSNP Id: rs1359330336
• gnomAD v2: 12-116420244-T-C
• gnomAD v4: 12-115982439-T-C
• MyVariant Identifiers: chr12:g.116420244T>C (hg19) ; chr12:g.115982439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982439T>C , CM000674.2:g.115982439T>C	GRCh38
NC_000012.11:g.116420244T>C , CM000674.1:g.116420244T>C	GRCh37
NC_000012.10:g.114904627T>C	NCBI36
NG_023366.1:g.299748A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5120A>G MANE Select	ENSP00000281928.3:p.Tyr1707Cys
ENST00000549786.2:c.4548A>G
ENST00000648379.1:n.3488A>G
ENST00000648737.1:n.4884A>G
ENST00000648825.1:n.1860A>G
ENST00000648916.1:n.3131A>G
ENST00000649146.1:n.2363A>G
ENST00000649607.1:c.3304A>G
ENST00000649775.1:c.1609A>G
ENST00000650226.1:c.5120A>G	ENSP00000496981.1:p.Tyr1707Cys
ENST00000281928.7:c.5120A>G	ENSP00000281928.3:p.Tyr1707Cys
ENST00000549786.1:c.484A>G
ENST00000552340.1:c.152A>G	ENSP00000449876.1:p.Tyr51Cys
NM_015335.4:c.5120A>G	NP_056150.1:p.Tyr1707Cys
XM_011538080.1:c.5120A>G	XP_011536382.1:p.Tyr1707Cys
XM_011538081.1:c.5117A>G	XP_011536383.1:p.Tyr1706Cys
XM_011538082.1:c.5090A>G	XP_011536384.1:p.Tyr1697Cys
XM_011538080.2:c.5120A>G	XP_011536382.1:p.Tyr1707Cys
XM_011538081.2:c.5117A>G	XP_011536383.1:p.Tyr1706Cys
XM_011538082.2:c.5090A>G	XP_011536384.1:p.Tyr1697Cys
XM_017019090.1:c.5117A>G	XP_016874579.1:p.Tyr1706Cys
NM_015335.5:c.5120A>G MANE Select	NP_056150.1:p.Tyr1707Cys