Canonical Allele Identifier: CA244150387

Gene: MED13L

Linked Data

• dbSNP Id: rs949240808
• gnomAD v4: 12-115991955-T-C
• MyVariant Identifiers: chr12:g.116429760T>C (hg19) ; chr12:g.115991955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991955T>C , CM000674.2:g.115991955T>C	GRCh38
NC_000012.11:g.116429760T>C , CM000674.1:g.116429760T>C	GRCh37
NC_000012.10:g.114914143T>C	NCBI36
NG_023366.1:g.290232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2999A>G MANE Select	ENSP00000281928.3:p.Asn1000Ser
ENST00000548743.2:c.2969A>G	ENSP00000448553.2:p.Asn990Ser
ENST00000549786.2:c.2427A>G
ENST00000648173.1:n.1794A>G
ENST00000648379.1:n.1367A>G
ENST00000648737.1:n.2763A>G
ENST00000648916.1:n.1010A>G
ENST00000649607.1:c.1183A>G
ENST00000650226.1:c.2999A>G	ENSP00000496981.1:p.Asn1000Ser
ENST00000281928.7:c.2999A>G	ENSP00000281928.3:p.Asn1000Ser
NM_015335.4:c.2999A>G	NP_056150.1:p.Asn1000Ser
XM_011538080.1:c.2999A>G	XP_011536382.1:p.Asn1000Ser
XM_011538081.1:c.2996A>G	XP_011536383.1:p.Asn999Ser
XM_011538082.1:c.2969A>G	XP_011536384.1:p.Asn990Ser
XM_011538080.2:c.2999A>G	XP_011536382.1:p.Asn1000Ser
XM_011538081.2:c.2996A>G	XP_011536383.1:p.Asn999Ser
XM_011538082.2:c.2969A>G	XP_011536384.1:p.Asn990Ser
XM_017019090.1:c.2996A>G	XP_016874579.1:p.Asn999Ser
NM_015335.5:c.2999A>G MANE Select	NP_056150.1:p.Asn1000Ser