Canonical Allele Identifier: CA386889089

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991912-G-C
• MyVariant Identifiers: chr12:g.116429717G>C (hg19) ; chr12:g.115991912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991912G>C , CM000674.2:g.115991912G>C	GRCh38
NC_000012.11:g.116429717G>C , CM000674.1:g.116429717G>C	GRCh37
NC_000012.10:g.114914100G>C	NCBI36
NG_023366.1:g.290275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3042C>G MANE Select	ENSP00000281928.3:p.Asn1014Lys
ENST00000548743.2:c.3012C>G	ENSP00000448553.2:p.Asn1004Lys
ENST00000549786.2:c.2470C>G
ENST00000648173.1:n.1837C>G
ENST00000648379.1:n.1410C>G
ENST00000648737.1:n.2806C>G
ENST00000648916.1:n.1053C>G
ENST00000649607.1:c.1226C>G
ENST00000650226.1:c.3042C>G	ENSP00000496981.1:p.Asn1014Lys
ENST00000281928.7:c.3042C>G	ENSP00000281928.3:p.Asn1014Lys
NM_015335.4:c.3042C>G	NP_056150.1:p.Asn1014Lys
XM_011538080.1:c.3042C>G	XP_011536382.1:p.Asn1014Lys
XM_011538081.1:c.3039C>G	XP_011536383.1:p.Asn1013Lys
XM_011538082.1:c.3012C>G	XP_011536384.1:p.Asn1004Lys
XM_011538080.2:c.3042C>G	XP_011536382.1:p.Asn1014Lys
XM_011538081.2:c.3039C>G	XP_011536383.1:p.Asn1013Lys
XM_011538082.2:c.3012C>G	XP_011536384.1:p.Asn1004Lys
XM_017019090.1:c.3039C>G	XP_016874579.1:p.Asn1013Lys
NM_015335.5:c.3042C>G MANE Select	NP_056150.1:p.Asn1014Lys