Canonical Allele Identifier: CA386876074

Gene: MED13L

Linked Data

• dbSNP Id: rs1172075919
• gnomAD v2: 12-116408402-T-C
• gnomAD v4: 12-115970597-T-C
• MyVariant Identifiers: chr12:g.116408402T>C (hg19) ; chr12:g.115970597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970597T>C , CM000674.2:g.115970597T>C	GRCh38
NC_000012.11:g.116408402T>C , CM000674.1:g.116408402T>C	GRCh37
NC_000012.10:g.114892785T>C	NCBI36
NG_023366.1:g.311590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6064A>G MANE Select	ENSP00000281928.3:p.Asn2022Asp
ENST00000548784.2:n.2278A>G
ENST00000648379.1:n.4432A>G
ENST00000648737.1:n.5828A>G
ENST00000648825.1:n.4249A>G
ENST00000648916.1:n.4075A>G
ENST00000649607.1:c.4248A>G
ENST00000649775.1:c.2553A>G
ENST00000650226.1:c.6100A>G	ENSP00000496981.1:p.Asn2034Asp
ENST00000281928.7:c.6064A>G	ENSP00000281928.3:p.Asn2022Asp
NM_015335.4:c.6064A>G	NP_056150.1:p.Asn2022Asp
XM_011538080.1:c.6100A>G	XP_011536382.1:p.Asn2034Asp
XM_011538081.1:c.6097A>G	XP_011536383.1:p.Asn2033Asp
XM_011538082.1:c.6070A>G	XP_011536384.1:p.Asn2024Asp
XM_011538080.2:c.6100A>G	XP_011536382.1:p.Asn2034Asp
XM_011538081.2:c.6097A>G	XP_011536383.1:p.Asn2033Asp
XM_011538082.2:c.6070A>G	XP_011536384.1:p.Asn2024Asp
XM_017019090.1:c.6061A>G	XP_016874579.1:p.Asn2021Asp
NM_015335.5:c.6064A>G MANE Select	NP_056150.1:p.Asn2022Asp