Canonical Allele Identifier: CA386890820

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434986C>A (hg19) ; chr12:g.115997181C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997181C>A , CM000674.2:g.115997181C>A	GRCh38
NC_000012.11:g.116434986C>A , CM000674.1:g.116434986C>A	GRCh37
NC_000012.10:g.114919369C>A	NCBI36
NG_023366.1:g.285006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2619G>T MANE Select	ENSP00000281928.3:p.Gln873His
ENST00000548743.2:c.2589G>T	ENSP00000448553.2:p.Gln863His
ENST00000549786.2:c.2047G>T
ENST00000647927.1:n.2992G>T
ENST00000648173.1:n.1414G>T
ENST00000648379.1:n.987G>T
ENST00000648737.1:n.2383G>T
ENST00000648916.1:n.630G>T
ENST00000649607.1:c.803G>T
ENST00000650226.1:c.2619G>T	ENSP00000496981.1:p.Gln873His
ENST00000281928.7:c.2619G>T	ENSP00000281928.3:p.Gln873His
NM_015335.4:c.2619G>T	NP_056150.1:p.Gln873His
XM_011538080.1:c.2619G>T	XP_011536382.1:p.Gln873His
XM_011538081.1:c.2616G>T	XP_011536383.1:p.Gln872His
XM_011538082.1:c.2589G>T	XP_011536384.1:p.Gln863His
XM_011538080.2:c.2619G>T	XP_011536382.1:p.Gln873His
XM_011538081.2:c.2616G>T	XP_011536383.1:p.Gln872His
XM_011538082.2:c.2589G>T	XP_011536384.1:p.Gln863His
XM_017019090.1:c.2616G>T	XP_016874579.1:p.Gln872His
NM_015335.5:c.2619G>T MANE Select	NP_056150.1:p.Gln873His