Canonical Allele Identifier: CA481944863

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975280-A-G
• MyVariant Identifiers: chr12:g.116413085A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975280A>G , CM000674.2:g.115975280A>G	GRCh38
NC_000012.11:g.116413085A>G , CM000674.1:g.116413085A>G	GRCh37
NC_000012.10:g.114897468A>G	NCBI36
NG_023366.1:g.306907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5622T>C MANE Select	ENSP00000281928.3:p.Ile1874=
ENST00000548694.2:n.612T>C
ENST00000648379.1:n.3990T>C
ENST00000648737.1:n.5386T>C
ENST00000648825.1:n.3807T>C
ENST00000648916.1:n.3633T>C
ENST00000649607.1:c.3806T>C
ENST00000649775.1:c.2111T>C
ENST00000650226.1:c.5658T>C	ENSP00000496981.1:p.Ile1886=
ENST00000281928.7:c.5622T>C	ENSP00000281928.3:p.Ile1874=
ENST00000548694.1:n.612T>C
ENST00000552447.1:c.235T>C
NM_015335.4:c.5622T>C	NP_056150.1:p.Ile1874=
XM_011538080.1:c.5658T>C	XP_011536382.1:p.Ile1886=
XM_011538081.1:c.5655T>C	XP_011536383.1:p.Ile1885=
XM_011538082.1:c.5628T>C	XP_011536384.1:p.Ile1876=
XM_011538080.2:c.5658T>C	XP_011536382.1:p.Ile1886=
XM_011538081.2:c.5655T>C	XP_011536383.1:p.Ile1885=
XM_011538082.2:c.5628T>C	XP_011536384.1:p.Ile1876=
XM_017019090.1:c.5619T>C	XP_016874579.1:p.Ile1873=
NM_015335.5:c.5622T>C MANE Select	NP_056150.1:p.Ile1874=