Canonical Allele Identifier: CA481944701

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975205-C-A
• MyVariant Identifiers: chr12:g.116413010C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975205C>A , CM000674.2:g.115975205C>A	GRCh38
NC_000012.11:g.116413010C>A , CM000674.1:g.116413010C>A	GRCh37
NC_000012.10:g.114897393C>A	NCBI36
NG_023366.1:g.306982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5697G>T MANE Select	ENSP00000281928.3:p.Gly1899=
ENST00000548694.2:n.687G>T
ENST00000648379.1:n.4065G>T
ENST00000648737.1:n.5461G>T
ENST00000648825.1:n.3882G>T
ENST00000648916.1:n.3708G>T
ENST00000649607.1:c.3881G>T
ENST00000649775.1:c.2186G>T
ENST00000650226.1:c.5733G>T	ENSP00000496981.1:p.Gly1911=
ENST00000281928.7:c.5697G>T	ENSP00000281928.3:p.Gly1899=
ENST00000548694.1:n.687G>T
ENST00000552447.1:c.310G>T
NM_015335.4:c.5697G>T	NP_056150.1:p.Gly1899=
XM_011538080.1:c.5733G>T	XP_011536382.1:p.Gly1911=
XM_011538081.1:c.5730G>T	XP_011536383.1:p.Gly1910=
XM_011538082.1:c.5703G>T	XP_011536384.1:p.Gly1901=
XM_011538080.2:c.5733G>T	XP_011536382.1:p.Gly1911=
XM_011538081.2:c.5730G>T	XP_011536383.1:p.Gly1910=
XM_011538082.2:c.5703G>T	XP_011536384.1:p.Gly1901=
XM_017019090.1:c.5694G>T	XP_016874579.1:p.Gly1898=
NM_015335.5:c.5697G>T MANE Select	NP_056150.1:p.Gly1899=