Canonical Allele Identifier: CA386876133

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408426T>G (hg19) ; chr12:g.115970621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970621T>G , CM000674.2:g.115970621T>G	GRCh38
NC_000012.11:g.116408426T>G , CM000674.1:g.116408426T>G	GRCh37
NC_000012.10:g.114892809T>G	NCBI36
NG_023366.1:g.311566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6040A>C MANE Select	ENSP00000281928.3:p.Asn2014His
ENST00000548784.2:n.2254A>C
ENST00000648379.1:n.4408A>C
ENST00000648737.1:n.5804A>C
ENST00000648825.1:n.4225A>C
ENST00000648916.1:n.4051A>C
ENST00000649607.1:c.4224A>C
ENST00000649775.1:c.2529A>C
ENST00000650226.1:c.6076A>C	ENSP00000496981.1:p.Asn2026His
ENST00000281928.7:c.6040A>C	ENSP00000281928.3:p.Asn2014His
NM_015335.4:c.6040A>C	NP_056150.1:p.Asn2014His
XM_011538080.1:c.6076A>C	XP_011536382.1:p.Asn2026His
XM_011538081.1:c.6073A>C	XP_011536383.1:p.Asn2025His
XM_011538082.1:c.6046A>C	XP_011536384.1:p.Asn2016His
XM_011538080.2:c.6076A>C	XP_011536382.1:p.Asn2026His
XM_011538081.2:c.6073A>C	XP_011536383.1:p.Asn2025His
XM_011538082.2:c.6046A>C	XP_011536384.1:p.Asn2016His
XM_017019090.1:c.6037A>C	XP_016874579.1:p.Asn2013His
NM_015335.5:c.6040A>C MANE Select	NP_056150.1:p.Asn2014His