Canonical Allele Identifier: CA386890678

Gene: MED13L

Linked Data

• dbSNP Id: rs1234463604
• gnomAD v2: 12-116434924-G-A
• gnomAD v3: 12-115997119-G-A
• gnomAD v4: 12-115997119-G-A
• MyVariant Identifiers: chr12:g.116434924G>A (hg19) ; chr12:g.115997119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997119G>A , CM000674.2:g.115997119G>A	GRCh38
NC_000012.11:g.116434924G>A , CM000674.1:g.116434924G>A	GRCh37
NC_000012.10:g.114919307G>A	NCBI36
NG_023366.1:g.285068C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2681C>T MANE Select	ENSP00000281928.3:p.Ala894Val
ENST00000548743.2:c.2651C>T	ENSP00000448553.2:p.Ala884Val
ENST00000549786.2:c.2109C>T
ENST00000647927.1:n.3054C>T
ENST00000648173.1:n.1476C>T
ENST00000648379.1:n.1049C>T
ENST00000648737.1:n.2445C>T
ENST00000648916.1:n.692C>T
ENST00000649607.1:c.865C>T
ENST00000650226.1:c.2681C>T	ENSP00000496981.1:p.Ala894Val
ENST00000281928.7:c.2681C>T	ENSP00000281928.3:p.Ala894Val
NM_015335.4:c.2681C>T	NP_056150.1:p.Ala894Val
XM_011538080.1:c.2681C>T	XP_011536382.1:p.Ala894Val
XM_011538081.1:c.2678C>T	XP_011536383.1:p.Ala893Val
XM_011538082.1:c.2651C>T	XP_011536384.1:p.Ala884Val
XM_011538080.2:c.2681C>T	XP_011536382.1:p.Ala894Val
XM_011538081.2:c.2678C>T	XP_011536383.1:p.Ala893Val
XM_011538082.2:c.2651C>T	XP_011536384.1:p.Ala884Val
XM_017019090.1:c.2678C>T	XP_016874579.1:p.Ala893Val
NM_015335.5:c.2681C>T MANE Select	NP_056150.1:p.Ala894Val