Canonical Allele Identifier: CA481946176

Gene: MED13L

Linked Data

• dbSNP Id: rs1384761435
• gnomAD v2: 12-116420273-G-A
• gnomAD v4: 12-115982468-G-A
• MyVariant Identifiers: chr12:g.116420273G>A (hg19) ; chr12:g.115982468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982468G>A , CM000674.2:g.115982468G>A	GRCh38
NC_000012.11:g.116420273G>A , CM000674.1:g.116420273G>A	GRCh37
NC_000012.10:g.114904656G>A	NCBI36
NG_023366.1:g.299719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5091C>T MANE Select	ENSP00000281928.3:p.Asn1697=
ENST00000549786.2:c.4519C>T
ENST00000648379.1:n.3459C>T
ENST00000648737.1:n.4855C>T
ENST00000648825.1:n.1831C>T
ENST00000648916.1:n.3102C>T
ENST00000649146.1:n.2334C>T
ENST00000649607.1:c.3275C>T
ENST00000649775.1:c.1580C>T
ENST00000650226.1:c.5091C>T	ENSP00000496981.1:p.Asn1697=
ENST00000281928.7:c.5091C>T	ENSP00000281928.3:p.Asn1697=
ENST00000549786.1:c.455C>T
ENST00000552340.1:c.123C>T	ENSP00000449876.1:p.Asn41=
NM_015335.4:c.5091C>T	NP_056150.1:p.Asn1697=
XM_011538080.1:c.5091C>T	XP_011536382.1:p.Asn1697=
XM_011538081.1:c.5088C>T	XP_011536383.1:p.Asn1696=
XM_011538082.1:c.5061C>T	XP_011536384.1:p.Asn1687=
XM_011538080.2:c.5091C>T	XP_011536382.1:p.Asn1697=
XM_011538081.2:c.5088C>T	XP_011536383.1:p.Asn1696=
XM_011538082.2:c.5061C>T	XP_011536384.1:p.Asn1687=
XM_017019090.1:c.5088C>T	XP_016874579.1:p.Asn1696=
NM_015335.5:c.5091C>T MANE Select	NP_056150.1:p.Asn1697=