Canonical Allele Identifier: CA244150055

Gene: MED13L

Linked Data

• dbSNP Id: rs994190225
• gnomAD v3: 12-115991652-T-G
• gnomAD v4: 12-115991652-T-G
• MyVariant Identifiers: chr12:g.116429457T>G (hg19) ; chr12:g.115991652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991652T>G , CM000674.2:g.115991652T>G	GRCh38
NC_000012.11:g.116429457T>G , CM000674.1:g.116429457T>G	GRCh37
NC_000012.10:g.114913840T>G	NCBI36
NG_023366.1:g.290535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3302A>C MANE Select	ENSP00000281928.3:p.Gln1101Pro
ENST00000549786.2:c.2730A>C
ENST00000648379.1:n.1670A>C
ENST00000648737.1:n.3066A>C
ENST00000648825.1:n.42A>C
ENST00000648916.1:n.1313A>C
ENST00000649607.1:c.1486A>C
ENST00000650226.1:c.3302A>C	ENSP00000496981.1:p.Gln1101Pro
ENST00000281928.7:c.3302A>C	ENSP00000281928.3:p.Gln1101Pro
NM_015335.4:c.3302A>C	NP_056150.1:p.Gln1101Pro
XM_011538080.1:c.3302A>C	XP_011536382.1:p.Gln1101Pro
XM_011538081.1:c.3299A>C	XP_011536383.1:p.Gln1100Pro
XM_011538082.1:c.3272A>C	XP_011536384.1:p.Gln1091Pro
XM_011538080.2:c.3302A>C	XP_011536382.1:p.Gln1101Pro
XM_011538081.2:c.3299A>C	XP_011536383.1:p.Gln1100Pro
XM_011538082.2:c.3272A>C	XP_011536384.1:p.Gln1091Pro
XM_017019090.1:c.3299A>C	XP_016874579.1:p.Gln1100Pro
NM_015335.5:c.3302A>C MANE Select	NP_056150.1:p.Gln1101Pro