Canonical Allele Identifier: CA386887812

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1013364
• ClinVar RCV Id: RCV001311831
• dbSNP Id: rs1878060112
• MyVariant Identifiers: chr12:g.116429350T>G (hg19) ; chr12:g.115991545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991545T>G , CM000674.2:g.115991545T>G	GRCh38
NC_000012.11:g.116429350T>G , CM000674.1:g.116429350T>G	GRCh37
NC_000012.10:g.114913733T>G	NCBI36
NG_023366.1:g.290642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3409A>C MANE Select	ENSP00000281928.3:p.Asn1137His
ENST00000549786.2:c.2837A>C
ENST00000648379.1:n.1777A>C
ENST00000648737.1:n.3173A>C
ENST00000648825.1:n.149A>C
ENST00000648916.1:n.1420A>C
ENST00000649607.1:c.1593A>C
ENST00000650226.1:c.3409A>C	ENSP00000496981.1:p.Asn1137His
ENST00000281928.7:c.3409A>C	ENSP00000281928.3:p.Asn1137His
NM_015335.4:c.3409A>C	NP_056150.1:p.Asn1137His
XM_011538080.1:c.3409A>C	XP_011536382.1:p.Asn1137His
XM_011538081.1:c.3406A>C	XP_011536383.1:p.Asn1136His
XM_011538082.1:c.3379A>C	XP_011536384.1:p.Asn1127His
XM_011538080.2:c.3409A>C	XP_011536382.1:p.Asn1137His
XM_011538081.2:c.3406A>C	XP_011536383.1:p.Asn1136His
XM_011538082.2:c.3379A>C	XP_011536384.1:p.Asn1127His
XM_017019090.1:c.3406A>C	XP_016874579.1:p.Asn1136His
NM_015335.5:c.3409A>C MANE Select	NP_056150.1:p.Asn1137His