Canonical Allele Identifier: CA414844541

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869903T>A (hg19) ; chrY:g.19708017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708017T>A , CM000686.2:g.19708017T>A	GRCh38
NC_000024.9:g.21869903T>A , CM000686.1:g.21869903T>A	GRCh37
NC_000024.8:g.20329291T>A	NCBI36
NG_032920.1:g.41923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3316A>T MANE Select	ENSP00000322408.4:p.Met1106Leu
ENST00000317961.8:c.3316A>T	ENSP00000322408.4:p.Met1106Leu
ENST00000382806.6:c.3145A>T	ENSP00000372256.2:p.Met1049Leu
ENST00000415360.1:c.232A>T	ENSP00000389433.1:p.Met78Leu
ENST00000440077.5:c.3193A>T	ENSP00000398543.1:p.Met1065Leu
ENST00000469599.6:n.1914A>T
ENST00000492117.1:n.3208A>T
ENST00000541639.5:c.3409A>T	ENSP00000444293.1:p.Met1137Leu
NM_001146705.1:c.3409A>T	NP_001140177.1:p.Met1137Leu
NM_001146706.1:c.3145A>T	NP_001140178.1:p.Met1049Leu
NM_004653.4:c.3316A>T	NP_004644.2:p.Met1106Leu
XM_005262560.1:c.3181A>T	XP_005262617.1:p.Met1061Leu
XM_005262561.1:c.3085A>T	XP_005262618.1:p.Met1029Leu
XM_011531468.1:c.3238A>T	XP_011529770.1:p.Met1080Leu
XR_244571.2:n.3604A>T
XR_430568.2:n.3938A>T
XM_005262560.3:c.3181A>T	XP_005262617.1:p.Met1061Leu
XM_005262561.3:c.3085A>T	XP_005262618.1:p.Met1029Leu
XM_011531468.3:c.3238A>T	XP_011529770.1:p.Met1080Leu
XM_024452495.1:c.1306A>T	XP_024308263.1:p.Met436Leu
XM_024452496.1:c.1072A>T	XP_024308264.1:p.Met358Leu
XR_001756009.2:n.4054A>T
XR_001756010.2:n.4054A>T
XR_001756011.2:n.3919A>T
XR_001756012.2:n.4067A>T
XR_001756013.2:n.3385A>T
XR_002958832.1:n.3486A>T
XR_002958834.1:n.3710A>T
XR_002958835.1:n.3593A>T
XR_002958836.1:n.4276A>T
XR_002958837.1:n.4083A>T
XR_244571.4:n.3603A>T
XR_430568.4:n.3937A>T
NM_001146706.2:c.3145A>T	NP_001140178.1:p.Met1049Leu
NM_004653.5:c.3316A>T MANE Select	NP_004644.2:p.Met1106Leu
NM_001146705.2:c.3409A>T	NP_001140177.1:p.Met1137Leu