Canonical Allele Identifier: CA386874639

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403950A>T (hg19) ; chr12:g.115966145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966145A>T , CM000674.2:g.115966145A>T	GRCh38
NC_000012.11:g.116403950A>T , CM000674.1:g.116403950A>T	GRCh37
NC_000012.10:g.114888333A>T	NCBI36
NG_023366.1:g.316042T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6324T>A MANE Select	ENSP00000281928.3:p.Asn2108Lys
ENST00000548784.2:n.2538T>A
ENST00000648379.1:n.4692T>A
ENST00000648737.1:n.6088T>A
ENST00000648762.1:n.1014T>A
ENST00000648825.1:n.4509T>A
ENST00000648916.1:n.4335T>A
ENST00000649607.1:c.4508T>A
ENST00000649775.1:c.2655T>A
ENST00000650226.1:c.6360T>A	ENSP00000496981.1:p.Asn2120Lys
ENST00000281928.7:c.6324T>A	ENSP00000281928.3:p.Asn2108Lys
NM_015335.4:c.6324T>A	NP_056150.1:p.Asn2108Lys
XM_011538080.1:c.6360T>A	XP_011536382.1:p.Asn2120Lys
XM_011538081.1:c.6357T>A	XP_011536383.1:p.Asn2119Lys
XM_011538082.1:c.6330T>A	XP_011536384.1:p.Asn2110Lys
XM_011538080.2:c.6360T>A	XP_011536382.1:p.Asn2120Lys
XM_011538081.2:c.6357T>A	XP_011536383.1:p.Asn2119Lys
XM_011538082.2:c.6330T>A	XP_011536384.1:p.Asn2110Lys
XM_017019090.1:c.6321T>A	XP_016874579.1:p.Asn2107Lys
NM_015335.5:c.6324T>A MANE Select	NP_056150.1:p.Asn2108Lys