Canonical Allele Identifier: CA482136969

Gene: MED13L

Linked Data

• dbSNP Id: rs1335371365
• gnomAD v2: 12-116421071-G-C
• gnomAD v4: 12-115983266-G-C
• MyVariant Identifiers: chr12:g.116421071G>C (hg19) ; chr12:g.115983266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983266G>C , CM000674.2:g.115983266G>C	GRCh38
NC_000012.11:g.116421071G>C , CM000674.1:g.116421071G>C	GRCh37
NC_000012.10:g.114905454G>C	NCBI36
NG_023366.1:g.298921C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4806C>G MANE Select	ENSP00000281928.3:p.Thr1602=
ENST00000549786.2:c.4234C>G
ENST00000648379.1:n.3174C>G
ENST00000648737.1:n.4570C>G
ENST00000648825.1:n.1546C>G
ENST00000648916.1:n.2817C>G
ENST00000649146.1:n.1536C>G
ENST00000649607.1:c.2990C>G
ENST00000649775.1:c.1303C>G
ENST00000650226.1:c.4806C>G	ENSP00000496981.1:p.Thr1602=
ENST00000281928.7:c.4806C>G	ENSP00000281928.3:p.Thr1602=
ENST00000549786.1:c.170C>G
NM_015335.4:c.4806C>G	NP_056150.1:p.Thr1602=
XM_011538080.1:c.4806C>G	XP_011536382.1:p.Thr1602=
XM_011538081.1:c.4803C>G	XP_011536383.1:p.Thr1601=
XM_011538082.1:c.4776C>G	XP_011536384.1:p.Thr1592=
XM_011538080.2:c.4806C>G	XP_011536382.1:p.Thr1602=
XM_011538081.2:c.4803C>G	XP_011536383.1:p.Thr1601=
XM_011538082.2:c.4776C>G	XP_011536384.1:p.Thr1592=
XM_017019090.1:c.4803C>G	XP_016874579.1:p.Thr1601=
NM_015335.5:c.4806C>G MANE Select	NP_056150.1:p.Thr1602=