Canonical Allele Identifier: CA386881345

Gene: MED13L

Linked Data

• dbSNP Id: rs1177934938
• gnomAD v2: 12-116420351-A-T
• gnomAD v4: 12-115982546-A-T
• MyVariant Identifiers: chr12:g.116420351A>T (hg19) ; chr12:g.115982546A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982546A>T , CM000674.2:g.115982546A>T	GRCh38
NC_000012.11:g.116420351A>T , CM000674.1:g.116420351A>T	GRCh37
NC_000012.10:g.114904734A>T	NCBI36
NG_023366.1:g.299641T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5013T>A MANE Select	ENSP00000281928.3:p.His1671Gln
ENST00000549786.2:c.4441T>A
ENST00000648379.1:n.3381T>A
ENST00000648737.1:n.4777T>A
ENST00000648825.1:n.1753T>A
ENST00000648916.1:n.3024T>A
ENST00000649146.1:n.2256T>A
ENST00000649607.1:c.3197T>A
ENST00000649775.1:c.1502T>A
ENST00000650226.1:c.5013T>A	ENSP00000496981.1:p.His1671Gln
ENST00000281928.7:c.5013T>A	ENSP00000281928.3:p.His1671Gln
ENST00000549786.1:c.377T>A
ENST00000552340.1:c.45T>A	ENSP00000449876.1:p.His15Gln
NM_015335.4:c.5013T>A	NP_056150.1:p.His1671Gln
XM_011538080.1:c.5013T>A	XP_011536382.1:p.His1671Gln
XM_011538081.1:c.5010T>A	XP_011536383.1:p.His1670Gln
XM_011538082.1:c.4983T>A	XP_011536384.1:p.His1661Gln
XM_011538080.2:c.5013T>A	XP_011536382.1:p.His1671Gln
XM_011538081.2:c.5010T>A	XP_011536383.1:p.His1670Gln
XM_011538082.2:c.4983T>A	XP_011536384.1:p.His1661Gln
XM_017019090.1:c.5010T>A	XP_016874579.1:p.His1670Gln
NM_015335.5:c.5013T>A MANE Select	NP_056150.1:p.His1671Gln