Canonical Allele Identifier: CA482137358

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991492-A-G
• MyVariant Identifiers: chr12:g.116429297A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991492A>G , CM000674.2:g.115991492A>G	GRCh38
NC_000012.11:g.116429297A>G , CM000674.1:g.116429297A>G	GRCh37
NC_000012.10:g.114913680A>G	NCBI36
NG_023366.1:g.290695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3462T>C MANE Select	ENSP00000281928.3:p.Asn1154=
ENST00000549786.2:c.2890T>C
ENST00000648379.1:n.1830T>C
ENST00000648737.1:n.3226T>C
ENST00000648825.1:n.202T>C
ENST00000648916.1:n.1473T>C
ENST00000649607.1:c.1646T>C
ENST00000650226.1:c.3462T>C	ENSP00000496981.1:p.Asn1154=
ENST00000281928.7:c.3462T>C	ENSP00000281928.3:p.Asn1154=
NM_015335.4:c.3462T>C	NP_056150.1:p.Asn1154=
XM_011538080.1:c.3462T>C	XP_011536382.1:p.Asn1154=
XM_011538081.1:c.3459T>C	XP_011536383.1:p.Asn1153=
XM_011538082.1:c.3432T>C	XP_011536384.1:p.Asn1144=
XM_011538080.2:c.3462T>C	XP_011536382.1:p.Asn1154=
XM_011538081.2:c.3459T>C	XP_011536383.1:p.Asn1153=
XM_011538082.2:c.3432T>C	XP_011536384.1:p.Asn1144=
XM_017019090.1:c.3459T>C	XP_016874579.1:p.Asn1153=
NM_015335.5:c.3462T>C MANE Select	NP_056150.1:p.Asn1154=