Canonical Allele Identifier: CA386887853

Gene: MED13L

Linked Data

• dbSNP Id: rs1178645658
• gnomAD v3: 12-115991562-C-G
• gnomAD v4: 12-115991562-C-G
• MyVariant Identifiers: chr12:g.116429367C>G (hg19) ; chr12:g.115991562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991562C>G , CM000674.2:g.115991562C>G	GRCh38
NC_000012.11:g.116429367C>G , CM000674.1:g.116429367C>G	GRCh37
NC_000012.10:g.114913750C>G	NCBI36
NG_023366.1:g.290625G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3392G>C MANE Select	ENSP00000281928.3:p.Cys1131Ser
ENST00000549786.2:c.2820G>C
ENST00000648379.1:n.1760G>C
ENST00000648737.1:n.3156G>C
ENST00000648825.1:n.132G>C
ENST00000648916.1:n.1403G>C
ENST00000649607.1:c.1576G>C
ENST00000650226.1:c.3392G>C	ENSP00000496981.1:p.Cys1131Ser
ENST00000281928.7:c.3392G>C	ENSP00000281928.3:p.Cys1131Ser
NM_015335.4:c.3392G>C	NP_056150.1:p.Cys1131Ser
XM_011538080.1:c.3392G>C	XP_011536382.1:p.Cys1131Ser
XM_011538081.1:c.3389G>C	XP_011536383.1:p.Cys1130Ser
XM_011538082.1:c.3362G>C	XP_011536384.1:p.Cys1121Ser
XM_011538080.2:c.3392G>C	XP_011536382.1:p.Cys1131Ser
XM_011538081.2:c.3389G>C	XP_011536383.1:p.Cys1130Ser
XM_011538082.2:c.3362G>C	XP_011536384.1:p.Cys1121Ser
XM_017019090.1:c.3389G>C	XP_016874579.1:p.Cys1130Ser
NM_015335.5:c.3392G>C MANE Select	NP_056150.1:p.Cys1131Ser