Canonical Allele Identifier: CA386890763

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434961T>A (hg19) ; chr12:g.115997156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997156T>A , CM000674.2:g.115997156T>A	GRCh38
NC_000012.11:g.116434961T>A , CM000674.1:g.116434961T>A	GRCh37
NC_000012.10:g.114919344T>A	NCBI36
NG_023366.1:g.285031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2644A>T MANE Select	ENSP00000281928.3:p.Asn882Tyr
ENST00000548743.2:c.2614A>T	ENSP00000448553.2:p.Asn872Tyr
ENST00000549786.2:c.2072A>T
ENST00000647927.1:n.3017A>T
ENST00000648173.1:n.1439A>T
ENST00000648379.1:n.1012A>T
ENST00000648737.1:n.2408A>T
ENST00000648916.1:n.655A>T
ENST00000649607.1:c.828A>T
ENST00000650226.1:c.2644A>T	ENSP00000496981.1:p.Asn882Tyr
ENST00000281928.7:c.2644A>T	ENSP00000281928.3:p.Asn882Tyr
NM_015335.4:c.2644A>T	NP_056150.1:p.Asn882Tyr
XM_011538080.1:c.2644A>T	XP_011536382.1:p.Asn882Tyr
XM_011538081.1:c.2641A>T	XP_011536383.1:p.Asn881Tyr
XM_011538082.1:c.2614A>T	XP_011536384.1:p.Asn872Tyr
XM_011538080.2:c.2644A>T	XP_011536382.1:p.Asn882Tyr
XM_011538081.2:c.2641A>T	XP_011536383.1:p.Asn881Tyr
XM_011538082.2:c.2614A>T	XP_011536384.1:p.Asn872Tyr
XM_017019090.1:c.2641A>T	XP_016874579.1:p.Asn881Tyr
NM_015335.5:c.2644A>T MANE Select	NP_056150.1:p.Asn882Tyr