Canonical Allele Identifier: CA386883677

Gene: MED13L

Linked Data

• dbSNP Id: rs561288892
• gnomAD v2: 12-116422094-C-A
• gnomAD v3: 12-115984289-C-A
• gnomAD v4: 12-115984289-C-A
• MyVariant Identifiers: chr12:g.116422094C>A (hg19) ; chr12:g.115984289C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984289C>A , CM000674.2:g.115984289C>A	GRCh38
NC_000012.11:g.116422094C>A , CM000674.1:g.116422094C>A	GRCh37
NC_000012.10:g.114906477C>A	NCBI36
NG_023366.1:g.297898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4422G>T MANE Select	ENSP00000281928.3:p.Lys1474Asn
ENST00000549786.2:c.3850G>T
ENST00000648379.1:n.2790G>T
ENST00000648737.1:n.4186G>T
ENST00000648825.1:n.1162G>T
ENST00000648916.1:n.2433G>T
ENST00000649146.1:n.1152G>T
ENST00000649607.1:c.2606G>T
ENST00000649775.1:c.919G>T
ENST00000650091.1:n.2398G>T
ENST00000650226.1:c.4422G>T	ENSP00000496981.1:p.Lys1474Asn
ENST00000281928.7:c.4422G>T	ENSP00000281928.3:p.Lys1474Asn
NM_015335.4:c.4422G>T	NP_056150.1:p.Lys1474Asn
XM_011538080.1:c.4422G>T	XP_011536382.1:p.Lys1474Asn
XM_011538081.1:c.4419G>T	XP_011536383.1:p.Lys1473Asn
XM_011538082.1:c.4392G>T	XP_011536384.1:p.Lys1464Asn
XM_011538080.2:c.4422G>T	XP_011536382.1:p.Lys1474Asn
XM_011538081.2:c.4419G>T	XP_011536383.1:p.Lys1473Asn
XM_011538082.2:c.4392G>T	XP_011536384.1:p.Lys1464Asn
XM_017019090.1:c.4419G>T	XP_016874579.1:p.Lys1473Asn
NM_015335.5:c.4422G>T MANE Select	NP_056150.1:p.Lys1474Asn