Canonical Allele Identifier: CA414844531

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869902A>C (hg19) ; chrY:g.19708016A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708016A>C , CM000686.2:g.19708016A>C	GRCh38
NC_000024.9:g.21869902A>C , CM000686.1:g.21869902A>C	GRCh37
NC_000024.8:g.20329290A>C	NCBI36
NG_032920.1:g.41924T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3317T>G MANE Select	ENSP00000322408.4:p.Met1106Arg
ENST00000317961.8:c.3317T>G	ENSP00000322408.4:p.Met1106Arg
ENST00000382806.6:c.3146T>G	ENSP00000372256.2:p.Met1049Arg
ENST00000415360.1:c.233T>G	ENSP00000389433.1:p.Met78Arg
ENST00000440077.5:c.3194T>G	ENSP00000398543.1:p.Met1065Arg
ENST00000469599.6:n.1915T>G
ENST00000492117.1:n.3209T>G
ENST00000541639.5:c.3410T>G	ENSP00000444293.1:p.Met1137Arg
NM_001146705.1:c.3410T>G	NP_001140177.1:p.Met1137Arg
NM_001146706.1:c.3146T>G	NP_001140178.1:p.Met1049Arg
NM_004653.4:c.3317T>G	NP_004644.2:p.Met1106Arg
XM_005262560.1:c.3182T>G	XP_005262617.1:p.Met1061Arg
XM_005262561.1:c.3086T>G	XP_005262618.1:p.Met1029Arg
XM_011531468.1:c.3239T>G	XP_011529770.1:p.Met1080Arg
XR_244571.2:n.3605T>G
XR_430568.2:n.3939T>G
XM_005262560.3:c.3182T>G	XP_005262617.1:p.Met1061Arg
XM_005262561.3:c.3086T>G	XP_005262618.1:p.Met1029Arg
XM_011531468.3:c.3239T>G	XP_011529770.1:p.Met1080Arg
XM_024452495.1:c.1307T>G	XP_024308263.1:p.Met436Arg
XM_024452496.1:c.1073T>G	XP_024308264.1:p.Met358Arg
XR_001756009.2:n.4055T>G
XR_001756010.2:n.4055T>G
XR_001756011.2:n.3920T>G
XR_001756012.2:n.4068T>G
XR_001756013.2:n.3386T>G
XR_002958832.1:n.3487T>G
XR_002958834.1:n.3711T>G
XR_002958835.1:n.3594T>G
XR_002958836.1:n.4277T>G
XR_002958837.1:n.4084T>G
XR_244571.4:n.3604T>G
XR_430568.4:n.3938T>G
NM_001146706.2:c.3146T>G	NP_001140178.1:p.Met1049Arg
NM_004653.5:c.3317T>G MANE Select	NP_004644.2:p.Met1106Arg
NM_001146705.2:c.3410T>G	NP_001140177.1:p.Met1137Arg