Canonical Allele Identifier: CA482137380

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991507-G-A
• MyVariant Identifiers: chr12:g.116429312G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991507G>A , CM000674.2:g.115991507G>A	GRCh38
NC_000012.11:g.116429312G>A , CM000674.1:g.116429312G>A	GRCh37
NC_000012.10:g.114913695G>A	NCBI36
NG_023366.1:g.290680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3447C>T MANE Select	ENSP00000281928.3:p.Ile1149=
ENST00000549786.2:c.2875C>T
ENST00000648379.1:n.1815C>T
ENST00000648737.1:n.3211C>T
ENST00000648825.1:n.187C>T
ENST00000648916.1:n.1458C>T
ENST00000649607.1:c.1631C>T
ENST00000650226.1:c.3447C>T	ENSP00000496981.1:p.Ile1149=
ENST00000281928.7:c.3447C>T	ENSP00000281928.3:p.Ile1149=
NM_015335.4:c.3447C>T	NP_056150.1:p.Ile1149=
XM_011538080.1:c.3447C>T	XP_011536382.1:p.Ile1149=
XM_011538081.1:c.3444C>T	XP_011536383.1:p.Ile1148=
XM_011538082.1:c.3417C>T	XP_011536384.1:p.Ile1139=
XM_011538080.2:c.3447C>T	XP_011536382.1:p.Ile1149=
XM_011538081.2:c.3444C>T	XP_011536383.1:p.Ile1148=
XM_011538082.2:c.3417C>T	XP_011536384.1:p.Ile1139=
XM_017019090.1:c.3444C>T	XP_016874579.1:p.Ile1148=
NM_015335.5:c.3447C>T MANE Select	NP_056150.1:p.Ile1149=