Canonical Allele Identifier: CA481948863

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429663A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991858A>G , CM000674.2:g.115991858A>G	GRCh38
NC_000012.11:g.116429663A>G , CM000674.1:g.116429663A>G	GRCh37
NC_000012.10:g.114914046A>G	NCBI36
NG_023366.1:g.290329T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3096T>C MANE Select	ENSP00000281928.3:p.Asn1032=
ENST00000548743.2:c.3066T>C	ENSP00000448553.2:p.Asn1022=
ENST00000549786.2:c.2524T>C
ENST00000648173.1:n.1891T>C
ENST00000648379.1:n.1464T>C
ENST00000648737.1:n.2860T>C
ENST00000648916.1:n.1107T>C
ENST00000649607.1:c.1280T>C
ENST00000650226.1:c.3096T>C	ENSP00000496981.1:p.Asn1032=
ENST00000281928.7:c.3096T>C	ENSP00000281928.3:p.Asn1032=
NM_015335.4:c.3096T>C	NP_056150.1:p.Asn1032=
XM_011538080.1:c.3096T>C	XP_011536382.1:p.Asn1032=
XM_011538081.1:c.3093T>C	XP_011536383.1:p.Asn1031=
XM_011538082.1:c.3066T>C	XP_011536384.1:p.Asn1022=
XM_011538080.2:c.3096T>C	XP_011536382.1:p.Asn1032=
XM_011538081.2:c.3093T>C	XP_011536383.1:p.Asn1031=
XM_011538082.2:c.3066T>C	XP_011536384.1:p.Asn1022=
XM_017019090.1:c.3093T>C	XP_016874579.1:p.Asn1031=
NM_015335.5:c.3096T>C MANE Select	NP_056150.1:p.Asn1032=