Canonical Allele Identifier: CA386874642

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403951T>C (hg19) ; chr12:g.115966146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966146T>C , CM000674.2:g.115966146T>C	GRCh38
NC_000012.11:g.116403951T>C , CM000674.1:g.116403951T>C	GRCh37
NC_000012.10:g.114888334T>C	NCBI36
NG_023366.1:g.316041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6323A>G MANE Select	ENSP00000281928.3:p.Asn2108Ser
ENST00000548784.2:n.2537A>G
ENST00000648379.1:n.4691A>G
ENST00000648737.1:n.6087A>G
ENST00000648762.1:n.1013A>G
ENST00000648825.1:n.4508A>G
ENST00000648916.1:n.4334A>G
ENST00000649607.1:c.4507A>G
ENST00000649775.1:c.2654A>G
ENST00000650226.1:c.6359A>G	ENSP00000496981.1:p.Asn2120Ser
ENST00000281928.7:c.6323A>G	ENSP00000281928.3:p.Asn2108Ser
NM_015335.4:c.6323A>G	NP_056150.1:p.Asn2108Ser
XM_011538080.1:c.6359A>G	XP_011536382.1:p.Asn2120Ser
XM_011538081.1:c.6356A>G	XP_011536383.1:p.Asn2119Ser
XM_011538082.1:c.6329A>G	XP_011536384.1:p.Asn2110Ser
XM_011538080.2:c.6359A>G	XP_011536382.1:p.Asn2120Ser
XM_011538081.2:c.6356A>G	XP_011536383.1:p.Asn2119Ser
XM_011538082.2:c.6329A>G	XP_011536384.1:p.Asn2110Ser
XM_017019090.1:c.6320A>G	XP_016874579.1:p.Asn2107Ser
NM_015335.5:c.6323A>G MANE Select	NP_056150.1:p.Asn2108Ser