Canonical Allele Identifier: CA382357216

Gene: MED17

Linked Data

• ClinVar Variation Id: 2800868
• ClinVar RCV Id: RCV003673774
• MyVariant Identifiers: chr11:g.93529575G>C (hg19) ; chr11:g.93796409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93796409G>C , CM000673.2:g.93796409G>C	GRCh38
NC_000011.9:g.93529575G>C , CM000673.1:g.93529575G>C	GRCh37
NC_000011.8:g.93169223G>C	NCBI36
NG_028028.1:g.17171G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251871.9:c.1013-1G>C MANE Select	ENSP00000251871.3:n.1013-1G>C
ENST00000507258.4:n.2725G>C
ENST00000525026.6:n.1320-1G>C
ENST00000529626.2:n.1016-1G>C
ENST00000531920.6:n.314-1G>C
ENST00000533133.6:c.1013-1G>C	ENSP00000433090.2:n.1013-1G>C
ENST00000533367.6:n.50G>C
ENST00000638294.1:c.626-1G>C	ENSP00000491675.1:n.626-1G>C
ENST00000638487.1:c.*339-1G>C	ENSP00000492294.1:n.*339-1G>C
ENST00000638518.1:c.354-5426G>C
ENST00000638767.1:c.1574-1G>C	ENSP00000492220.1:n.1574-1G>C
ENST00000638790.1:c.1041-1G>C	ENSP00000491457.1:n.1041-1G>C
ENST00000639189.1:c.1013-1G>C	ENSP00000491770.1:n.1013-1G>C
ENST00000639457.1:c.*339-1G>C	ENSP00000492391.1:n.*339-1G>C
ENST00000639523.1:c.948-1G>C
ENST00000639596.1:c.1013-1G>C	ENSP00000491918.1:n.1013-1G>C
ENST00000639724.1:c.1013-1G>C	ENSP00000492625.1:n.1013-1G>C
ENST00000640027.1:c.1013-1G>C	ENSP00000492872.1:n.1013-1G>C
ENST00000640077.1:c.554-528G>C	ENSP00000490968.1:n.554-528G>C
ENST00000640451.1:c.860-1G>C	ENSP00000492530.1:n.860-1G>C
ENST00000640473.1:c.251-1126G>C	ENSP00000491371.1:n.251-1126G>C
ENST00000640521.1:c.1013-1G>C	ENSP00000491108.1:n.1013-1G>C
ENST00000640583.1:n.1576-1G>C
ENST00000640804.1:n.1386-1G>C
ENST00000251871.7:c.1013-1G>C	ENSP00000251871.3:n.1013-1G>C
ENST00000507258.3:n.344-1G>C
ENST00000525026.5:n.2468-1G>C
ENST00000531920.5:n.314-1G>C
ENST00000533133.5:c.*298-1G>C	ENSP00000433090.1:n.*298-1G>C
ENST00000533367.5:n.66-1G>C
NM_004268.4:c.1013-1G>C	NP_004259.3:n.1013-1G>C
XM_011543068.1:c.1013-1G>C	XP_011541370.1:n.1013-1G>C
XR_247218.1:n.1247-1G>C
XR_947872.1:n.1247-1G>C
NM_004268.5:c.1013-1G>C MANE Select	NP_004259.3:n.1013-1G>C