Canonical Allele Identifier: CA386888396

Gene: MED13L

Linked Data

• dbSNP Id: rs761708192
• gnomAD v2: 12-116429480-G-C
• MyVariant Identifiers: chr12:g.116429480G>C (hg19) ; chr12:g.115991675G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991675G>C , CM000674.2:g.115991675G>C	GRCh38
NC_000012.11:g.116429480G>C , CM000674.1:g.116429480G>C	GRCh37
NC_000012.10:g.114913863G>C	NCBI36
NG_023366.1:g.290512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3279C>G MANE Select	ENSP00000281928.3:p.Asn1093Lys
ENST00000549786.2:c.2707C>G
ENST00000648379.1:n.1647C>G
ENST00000648737.1:n.3043C>G
ENST00000648825.1:n.19C>G
ENST00000648916.1:n.1290C>G
ENST00000649607.1:c.1463C>G
ENST00000650226.1:c.3279C>G	ENSP00000496981.1:p.Asn1093Lys
ENST00000281928.7:c.3279C>G	ENSP00000281928.3:p.Asn1093Lys
NM_015335.4:c.3279C>G	NP_056150.1:p.Asn1093Lys
XM_011538080.1:c.3279C>G	XP_011536382.1:p.Asn1093Lys
XM_011538081.1:c.3276C>G	XP_011536383.1:p.Asn1092Lys
XM_011538082.1:c.3249C>G	XP_011536384.1:p.Asn1083Lys
XM_011538080.2:c.3279C>G	XP_011536382.1:p.Asn1093Lys
XM_011538081.2:c.3276C>G	XP_011536383.1:p.Asn1092Lys
XM_011538082.2:c.3249C>G	XP_011536384.1:p.Asn1083Lys
XM_017019090.1:c.3276C>G	XP_016874579.1:p.Asn1092Lys
NM_015335.5:c.3279C>G MANE Select	NP_056150.1:p.Asn1093Lys