Canonical Allele Identifier: CA386881176

Gene: MED13L

Linked Data

• dbSNP Id: rs1422830184
• gnomAD v2: 12-116420274-T-C
• gnomAD v4: 12-115982469-T-C
• MyVariant Identifiers: chr12:g.116420274T>C (hg19) ; chr12:g.115982469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982469T>C , CM000674.2:g.115982469T>C	GRCh38
NC_000012.11:g.116420274T>C , CM000674.1:g.116420274T>C	GRCh37
NC_000012.10:g.114904657T>C	NCBI36
NG_023366.1:g.299718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5090A>G MANE Select	ENSP00000281928.3:p.Asn1697Ser
ENST00000549786.2:c.4518A>G
ENST00000648379.1:n.3458A>G
ENST00000648737.1:n.4854A>G
ENST00000648825.1:n.1830A>G
ENST00000648916.1:n.3101A>G
ENST00000649146.1:n.2333A>G
ENST00000649607.1:c.3274A>G
ENST00000649775.1:c.1579A>G
ENST00000650226.1:c.5090A>G	ENSP00000496981.1:p.Asn1697Ser
ENST00000281928.7:c.5090A>G	ENSP00000281928.3:p.Asn1697Ser
ENST00000549786.1:c.454A>G
ENST00000552340.1:c.122A>G	ENSP00000449876.1:p.Asn41Ser
NM_015335.4:c.5090A>G	NP_056150.1:p.Asn1697Ser
XM_011538080.1:c.5090A>G	XP_011536382.1:p.Asn1697Ser
XM_011538081.1:c.5087A>G	XP_011536383.1:p.Asn1696Ser
XM_011538082.1:c.5060A>G	XP_011536384.1:p.Asn1687Ser
XM_011538080.2:c.5090A>G	XP_011536382.1:p.Asn1697Ser
XM_011538081.2:c.5087A>G	XP_011536383.1:p.Asn1696Ser
XM_011538082.2:c.5060A>G	XP_011536384.1:p.Asn1687Ser
XM_017019090.1:c.5087A>G	XP_016874579.1:p.Asn1696Ser
NM_015335.5:c.5090A>G MANE Select	NP_056150.1:p.Asn1697Ser