Canonical Allele Identifier: CA386876472

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408523C>A (hg19) ; chr12:g.115970718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970718C>A , CM000674.2:g.115970718C>A	GRCh38
NC_000012.11:g.116408523C>A , CM000674.1:g.116408523C>A	GRCh37
NC_000012.10:g.114892906C>A	NCBI36
NG_023366.1:g.311469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5943G>T MANE Select	ENSP00000281928.3:p.Gln1981His
ENST00000548784.2:n.2157G>T
ENST00000648379.1:n.4311G>T
ENST00000648737.1:n.5707G>T
ENST00000648825.1:n.4128G>T
ENST00000648916.1:n.3954G>T
ENST00000649607.1:c.4127G>T
ENST00000649775.1:c.2432G>T
ENST00000650226.1:c.5979G>T	ENSP00000496981.1:p.Gln1993His
ENST00000281928.7:c.5943G>T	ENSP00000281928.3:p.Gln1981His
ENST00000548784.1:n.441G>T
ENST00000552447.1:c.556G>T
NM_015335.4:c.5943G>T	NP_056150.1:p.Gln1981His
XM_011538080.1:c.5979G>T	XP_011536382.1:p.Gln1993His
XM_011538081.1:c.5976G>T	XP_011536383.1:p.Gln1992His
XM_011538082.1:c.5949G>T	XP_011536384.1:p.Gln1983His
XM_011538080.2:c.5979G>T	XP_011536382.1:p.Gln1993His
XM_011538081.2:c.5976G>T	XP_011536383.1:p.Gln1992His
XM_011538082.2:c.5949G>T	XP_011536384.1:p.Gln1983His
XM_017019090.1:c.5940G>T	XP_016874579.1:p.Gln1980His
NM_015335.5:c.5943G>T MANE Select	NP_056150.1:p.Gln1981His