Canonical Allele Identifier: CA6811113

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2532656
• ClinVar RCV Id: RCV003253524 ; RCV003603155
• dbSNP Id: rs371712978
• ExAC: 12:116434900 A / G
• gnomAD v2: 12-116434900-A-G
• gnomAD v3: 12-115997095-A-G
• gnomAD v4: 12-115997095-A-G
• MyVariant Identifiers: chr12:g.116434900A>G (hg19) ; chr12:g.115997095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997095A>G , CM000674.2:g.115997095A>G	GRCh38
NC_000012.11:g.116434900A>G , CM000674.1:g.116434900A>G	GRCh37
NC_000012.10:g.114919283A>G	NCBI36
NG_023366.1:g.285092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2705T>C MANE Select	ENSP00000281928.3:p.Met902Thr
ENST00000548743.2:c.2675T>C	ENSP00000448553.2:p.Met892Thr
ENST00000549786.2:c.2133T>C
ENST00000647927.1:n.3078T>C
ENST00000648173.1:n.1500T>C
ENST00000648379.1:n.1073T>C
ENST00000648737.1:n.2469T>C
ENST00000648916.1:n.716T>C
ENST00000649607.1:c.889T>C
ENST00000650226.1:c.2705T>C	ENSP00000496981.1:p.Met902Thr
ENST00000281928.7:c.2705T>C	ENSP00000281928.3:p.Met902Thr
NM_015335.4:c.2705T>C	NP_056150.1:p.Met902Thr
XM_011538080.1:c.2705T>C	XP_011536382.1:p.Met902Thr
XM_011538081.1:c.2702T>C	XP_011536383.1:p.Met901Thr
XM_011538082.1:c.2675T>C	XP_011536384.1:p.Met892Thr
XM_011538080.2:c.2705T>C	XP_011536382.1:p.Met902Thr
XM_011538081.2:c.2702T>C	XP_011536383.1:p.Met901Thr
XM_011538082.2:c.2675T>C	XP_011536384.1:p.Met892Thr
XM_017019090.1:c.2702T>C	XP_016874579.1:p.Met901Thr
NM_015335.5:c.2705T>C MANE Select	NP_056150.1:p.Met902Thr