Canonical Allele Identifier: CA386881178

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982470-T-C
• MyVariant Identifiers: chr12:g.116420275T>C (hg19) ; chr12:g.115982470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982470T>C , CM000674.2:g.115982470T>C	GRCh38
NC_000012.11:g.116420275T>C , CM000674.1:g.116420275T>C	GRCh37
NC_000012.10:g.114904658T>C	NCBI36
NG_023366.1:g.299717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5089A>G MANE Select	ENSP00000281928.3:p.Asn1697Asp
ENST00000549786.2:c.4517A>G
ENST00000648379.1:n.3457A>G
ENST00000648737.1:n.4853A>G
ENST00000648825.1:n.1829A>G
ENST00000648916.1:n.3100A>G
ENST00000649146.1:n.2332A>G
ENST00000649607.1:c.3273A>G
ENST00000649775.1:c.1578A>G
ENST00000650226.1:c.5089A>G	ENSP00000496981.1:p.Asn1697Asp
ENST00000281928.7:c.5089A>G	ENSP00000281928.3:p.Asn1697Asp
ENST00000549786.1:c.453A>G
ENST00000552340.1:c.121A>G	ENSP00000449876.1:p.Asn41Asp
NM_015335.4:c.5089A>G	NP_056150.1:p.Asn1697Asp
XM_011538080.1:c.5089A>G	XP_011536382.1:p.Asn1697Asp
XM_011538081.1:c.5086A>G	XP_011536383.1:p.Asn1696Asp
XM_011538082.1:c.5059A>G	XP_011536384.1:p.Asn1687Asp
XM_011538080.2:c.5089A>G	XP_011536382.1:p.Asn1697Asp
XM_011538081.2:c.5086A>G	XP_011536383.1:p.Asn1696Asp
XM_011538082.2:c.5059A>G	XP_011536384.1:p.Asn1687Asp
XM_017019090.1:c.5086A>G	XP_016874579.1:p.Asn1696Asp
NM_015335.5:c.5089A>G MANE Select	NP_056150.1:p.Asn1697Asp