Canonical Allele Identifier: CA482137303

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429234A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991429A>G , CM000674.2:g.115991429A>G	GRCh38
NC_000012.11:g.116429234A>G , CM000674.1:g.116429234A>G	GRCh37
NC_000012.10:g.114913617A>G	NCBI36
NG_023366.1:g.290758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3525T>C MANE Select	ENSP00000281928.3:p.Asn1175=
ENST00000549786.2:c.2953T>C
ENST00000648379.1:n.1893T>C
ENST00000648737.1:n.3289T>C
ENST00000648825.1:n.265T>C
ENST00000648916.1:n.1536T>C
ENST00000649607.1:c.1709T>C
ENST00000649775.1:c.22T>C
ENST00000650226.1:c.3525T>C	ENSP00000496981.1:p.Asn1175=
ENST00000281928.7:c.3525T>C	ENSP00000281928.3:p.Asn1175=
NM_015335.4:c.3525T>C	NP_056150.1:p.Asn1175=
XM_011538080.1:c.3525T>C	XP_011536382.1:p.Asn1175=
XM_011538081.1:c.3522T>C	XP_011536383.1:p.Asn1174=
XM_011538082.1:c.3495T>C	XP_011536384.1:p.Asn1165=
XM_011538080.2:c.3525T>C	XP_011536382.1:p.Asn1175=
XM_011538081.2:c.3522T>C	XP_011536383.1:p.Asn1174=
XM_011538082.2:c.3495T>C	XP_011536384.1:p.Asn1165=
XM_017019090.1:c.3522T>C	XP_016874579.1:p.Asn1174=
NM_015335.5:c.3525T>C MANE Select	NP_056150.1:p.Asn1175=