Canonical Allele Identifier: CA6811042

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1589118
• ClinVar RCV Id: RCV002098723
• dbSNP Id: rs775221277
• ExAC: 12:116429759 G / A
• gnomAD v2: 12-116429759-G-A
• gnomAD v3: 12-115991954-G-A
• gnomAD v4: 12-115991954-G-A
• COSMIC: COSM4701475
• MyVariant Identifiers: chr12:g.116429759G>A (hg19) ; chr12:g.115991954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991954G>A , CM000674.2:g.115991954G>A	GRCh38
NC_000012.11:g.116429759G>A , CM000674.1:g.116429759G>A	GRCh37
NC_000012.10:g.114914142G>A	NCBI36
NG_023366.1:g.290233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3000C>T MANE Select	ENSP00000281928.3:p.Asn1000=
ENST00000548743.2:c.2970C>T	ENSP00000448553.2:p.Asn990=
ENST00000549786.2:c.2428C>T
ENST00000648173.1:n.1795C>T
ENST00000648379.1:n.1368C>T
ENST00000648737.1:n.2764C>T
ENST00000648916.1:n.1011C>T
ENST00000649607.1:c.1184C>T
ENST00000650226.1:c.3000C>T	ENSP00000496981.1:p.Asn1000=
ENST00000281928.7:c.3000C>T	ENSP00000281928.3:p.Asn1000=
NM_015335.4:c.3000C>T	NP_056150.1:p.Asn1000=
XM_011538080.1:c.3000C>T	XP_011536382.1:p.Asn1000=
XM_011538081.1:c.2997C>T	XP_011536383.1:p.Asn999=
XM_011538082.1:c.2970C>T	XP_011536384.1:p.Asn990=
XM_011538080.2:c.3000C>T	XP_011536382.1:p.Asn1000=
XM_011538081.2:c.2997C>T	XP_011536383.1:p.Asn999=
XM_011538082.2:c.2970C>T	XP_011536384.1:p.Asn990=
XM_017019090.1:c.2997C>T	XP_016874579.1:p.Asn999=
NM_015335.5:c.3000C>T MANE Select	NP_056150.1:p.Asn1000=