Canonical Allele Identifier: CA481942533

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403950A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6324T>C MANE Select	ENSP00000281928.3:p.Asn2108=
ENST00000548784.2:n.2538T>C
ENST00000648379.1:n.4692T>C
ENST00000648737.1:n.6088T>C
ENST00000648762.1:n.1014T>C
ENST00000648825.1:n.4509T>C
ENST00000648916.1:n.4335T>C
ENST00000649607.1:c.4508T>C
ENST00000649775.1:c.2655T>C
ENST00000650226.1:c.6360T>C	ENSP00000496981.1:p.Asn2120=
ENST00000281928.7:c.6324T>C	ENSP00000281928.3:p.Asn2108=
NM_015335.4:c.6324T>C	NP_056150.1:p.Asn2108=
XM_011538080.1:c.6360T>C	XP_011536382.1:p.Asn2120=
XM_011538081.1:c.6357T>C	XP_011536383.1:p.Asn2119=
XM_011538082.1:c.6330T>C	XP_011536384.1:p.Asn2110=
XM_011538080.2:c.6360T>C	XP_011536382.1:p.Asn2120=
XM_011538081.2:c.6357T>C	XP_011536383.1:p.Asn2119=
XM_011538082.2:c.6330T>C	XP_011536384.1:p.Asn2110=
XM_017019090.1:c.6321T>C	XP_016874579.1:p.Asn2107=
NM_015335.5:c.6324T>C MANE Select	NP_056150.1:p.Asn2108=