Canonical Allele Identifier: CA386890190

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434819A>T (hg19) ; chr12:g.115997014A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997014A>T , CM000674.2:g.115997014A>T	GRCh38
NC_000012.11:g.116434819A>T , CM000674.1:g.116434819A>T	GRCh37
NC_000012.10:g.114919202A>T	NCBI36
NG_023366.1:g.285173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2786T>A MANE Select	ENSP00000281928.3:p.Ile929Asn
ENST00000548743.2:c.2756T>A	ENSP00000448553.2:p.Ile919Asn
ENST00000549786.2:c.2214T>A
ENST00000647927.1:n.3159T>A
ENST00000648173.1:n.1581T>A
ENST00000648379.1:n.1154T>A
ENST00000648737.1:n.2550T>A
ENST00000648916.1:n.797T>A
ENST00000649607.1:c.970T>A
ENST00000650226.1:c.2786T>A	ENSP00000496981.1:p.Ile929Asn
ENST00000281928.7:c.2786T>A	ENSP00000281928.3:p.Ile929Asn
NM_015335.4:c.2786T>A	NP_056150.1:p.Ile929Asn
XM_011538080.1:c.2786T>A	XP_011536382.1:p.Ile929Asn
XM_011538081.1:c.2783T>A	XP_011536383.1:p.Ile928Asn
XM_011538082.1:c.2756T>A	XP_011536384.1:p.Ile919Asn
XM_011538080.2:c.2786T>A	XP_011536382.1:p.Ile929Asn
XM_011538081.2:c.2783T>A	XP_011536383.1:p.Ile928Asn
XM_011538082.2:c.2756T>A	XP_011536384.1:p.Ile919Asn
XM_017019090.1:c.2783T>A	XP_016874579.1:p.Ile928Asn
NM_015335.5:c.2786T>A MANE Select	NP_056150.1:p.Ile929Asn