Canonical Allele Identifier: CA386878839

Gene: MED13L

Linked Data

• dbSNP Id: rs1397464926
• gnomAD v2: 12-116413323-T-C
• gnomAD v4: 12-115975518-T-C
• MyVariant Identifiers: chr12:g.116413323T>C (hg19) ; chr12:g.115975518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975518T>C , CM000674.2:g.115975518T>C	GRCh38
NC_000012.11:g.116413323T>C , CM000674.1:g.116413323T>C	GRCh37
NC_000012.10:g.114897706T>C	NCBI36
NG_023366.1:g.306669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5585A>G MANE Select	ENSP00000281928.3:p.Asn1862Ser
ENST00000548694.2:n.374A>G
ENST00000648379.1:n.3953A>G
ENST00000648737.1:n.5349A>G
ENST00000648825.1:n.3770A>G
ENST00000648916.1:n.3596A>G
ENST00000649607.1:c.3769A>G
ENST00000649775.1:c.2074A>G
ENST00000650226.1:c.5585A>G	ENSP00000496981.1:p.Asn1862Ser
ENST00000281928.7:c.5585A>G	ENSP00000281928.3:p.Asn1862Ser
ENST00000548694.1:n.374A>G
ENST00000552447.1:c.162A>G
NM_015335.4:c.5585A>G	NP_056150.1:p.Asn1862Ser
XM_011538080.1:c.5585A>G	XP_011536382.1:p.Asn1862Ser
XM_011538081.1:c.5582A>G	XP_011536383.1:p.Asn1861Ser
XM_011538082.1:c.5555A>G	XP_011536384.1:p.Asn1852Ser
XM_011538080.2:c.5585A>G	XP_011536382.1:p.Asn1862Ser
XM_011538081.2:c.5582A>G	XP_011536383.1:p.Asn1861Ser
XM_011538082.2:c.5555A>G	XP_011536384.1:p.Asn1852Ser
XM_017019090.1:c.5582A>G	XP_016874579.1:p.Asn1861Ser
NM_015335.5:c.5585A>G MANE Select	NP_056150.1:p.Asn1862Ser