Canonical Allele Identifier: CA386876510

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408530T>A (hg19) ; chr12:g.115970725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970725T>A , CM000674.2:g.115970725T>A	GRCh38
NC_000012.11:g.116408530T>A , CM000674.1:g.116408530T>A	GRCh37
NC_000012.10:g.114892913T>A	NCBI36
NG_023366.1:g.311462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5936A>T MANE Select	ENSP00000281928.3:p.Asn1979Ile
ENST00000548784.2:n.2150A>T
ENST00000648379.1:n.4304A>T
ENST00000648737.1:n.5700A>T
ENST00000648825.1:n.4121A>T
ENST00000648916.1:n.3947A>T
ENST00000649607.1:c.4120A>T
ENST00000649775.1:c.2425A>T
ENST00000650226.1:c.5972A>T	ENSP00000496981.1:p.Asn1991Ile
ENST00000281928.7:c.5936A>T	ENSP00000281928.3:p.Asn1979Ile
ENST00000548784.1:n.434A>T
ENST00000552447.1:c.549A>T
NM_015335.4:c.5936A>T	NP_056150.1:p.Asn1979Ile
XM_011538080.1:c.5972A>T	XP_011536382.1:p.Asn1991Ile
XM_011538081.1:c.5969A>T	XP_011536383.1:p.Asn1990Ile
XM_011538082.1:c.5942A>T	XP_011536384.1:p.Asn1981Ile
XM_011538080.2:c.5972A>T	XP_011536382.1:p.Asn1991Ile
XM_011538081.2:c.5969A>T	XP_011536383.1:p.Asn1990Ile
XM_011538082.2:c.5942A>T	XP_011536384.1:p.Asn1981Ile
XM_017019090.1:c.5933A>T	XP_016874579.1:p.Asn1978Ile
NM_015335.5:c.5936A>T MANE Select	NP_056150.1:p.Asn1979Ile