Canonical Allele Identifier: CA386876094

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408410C>T (hg19) ; chr12:g.115970605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970605C>T , CM000674.2:g.115970605C>T	GRCh38
NC_000012.11:g.116408410C>T , CM000674.1:g.116408410C>T	GRCh37
NC_000012.10:g.114892793C>T	NCBI36
NG_023366.1:g.311582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6056G>A MANE Select	ENSP00000281928.3:p.Ser2019Asn
ENST00000548784.2:n.2270G>A
ENST00000648379.1:n.4424G>A
ENST00000648737.1:n.5820G>A
ENST00000648825.1:n.4241G>A
ENST00000648916.1:n.4067G>A
ENST00000649607.1:c.4240G>A
ENST00000649775.1:c.2545G>A
ENST00000650226.1:c.6092G>A	ENSP00000496981.1:p.Ser2031Asn
ENST00000281928.7:c.6056G>A	ENSP00000281928.3:p.Ser2019Asn
NM_015335.4:c.6056G>A	NP_056150.1:p.Ser2019Asn
XM_011538080.1:c.6092G>A	XP_011536382.1:p.Ser2031Asn
XM_011538081.1:c.6089G>A	XP_011536383.1:p.Ser2030Asn
XM_011538082.1:c.6062G>A	XP_011536384.1:p.Ser2021Asn
XM_011538080.2:c.6092G>A	XP_011536382.1:p.Ser2031Asn
XM_011538081.2:c.6089G>A	XP_011536383.1:p.Ser2030Asn
XM_011538082.2:c.6062G>A	XP_011536384.1:p.Ser2021Asn
XM_017019090.1:c.6053G>A	XP_016874579.1:p.Ser2018Asn
NM_015335.5:c.6056G>A MANE Select	NP_056150.1:p.Ser2019Asn