Canonical Allele Identifier: CA481949705

Gene: MED13L

Linked Data

• dbSNP Id: rs1340760702
• gnomAD v2: 12-116435034-T-C
• gnomAD v4: 12-115997229-T-C
• MyVariant Identifiers: chr12:g.116435034T>C (hg19) ; chr12:g.115997229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997229T>C , CM000674.2:g.115997229T>C	GRCh38
NC_000012.11:g.116435034T>C , CM000674.1:g.116435034T>C	GRCh37
NC_000012.10:g.114919417T>C	NCBI36
NG_023366.1:g.284958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2571A>G MANE Select	ENSP00000281928.3:p.Thr857=
ENST00000548743.2:c.2541A>G	ENSP00000448553.2:p.Thr847=
ENST00000549786.2:c.1999A>G
ENST00000647927.1:n.2944A>G
ENST00000648173.1:n.1366A>G
ENST00000648379.1:n.939A>G
ENST00000648737.1:n.2335A>G
ENST00000648916.1:n.582A>G
ENST00000649607.1:c.757-2A>G
ENST00000650226.1:c.2571A>G	ENSP00000496981.1:p.Thr857=
ENST00000281928.7:c.2571A>G	ENSP00000281928.3:p.Thr857=
NM_015335.4:c.2571A>G	NP_056150.1:p.Thr857=
XM_011538080.1:c.2571A>G	XP_011536382.1:p.Thr857=
XM_011538081.1:c.2570-2A>G	XP_011536383.1:n.2570-2A>G
XM_011538082.1:c.2541A>G	XP_011536384.1:p.Thr847=
XM_011538080.2:c.2571A>G	XP_011536382.1:p.Thr857=
XM_011538081.2:c.2570-2A>G	XP_011536383.1:n.2570-2A>G
XM_011538082.2:c.2541A>G	XP_011536384.1:p.Thr847=
XM_017019090.1:c.2570-2A>G	XP_016874579.1:n.2570-2A>G
NM_015335.5:c.2571A>G MANE Select	NP_056150.1:p.Thr857=