Canonical Allele Identifier: CA414843223

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869348T>G (hg19) ; chrY:g.19707462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707462T>G , CM000686.2:g.19707462T>G	GRCh38
NC_000024.9:g.21869348T>G , CM000686.1:g.21869348T>G	GRCh37
NC_000024.8:g.20328736T>G	NCBI36
NG_032920.1:g.42478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3684A>C MANE Select	ENSP00000322408.4:p.Lys1228Asn
ENST00000317961.8:c.3684A>C	ENSP00000322408.4:p.Lys1228Asn
ENST00000382806.6:c.3513A>C	ENSP00000372256.2:p.Lys1171Asn
ENST00000415360.1:c.600A>C	ENSP00000389433.1:p.Lys200Asn
ENST00000440077.5:c.3561A>C	ENSP00000398543.1:p.Lys1187Asn
ENST00000469599.6:n.2282A>C
ENST00000492117.1:n.3576A>C
ENST00000541639.5:c.3777A>C	ENSP00000444293.1:p.Lys1259Asn
NM_001146705.1:c.3777A>C	NP_001140177.1:p.Lys1259Asn
NM_001146706.1:c.3513A>C	NP_001140178.1:p.Lys1171Asn
NM_004653.4:c.3684A>C	NP_004644.2:p.Lys1228Asn
XM_005262560.1:c.3549A>C	XP_005262617.1:p.Lys1183Asn
XM_005262561.1:c.3453A>C	XP_005262618.1:p.Lys1151Asn
XM_011531468.1:c.3606A>C	XP_011529770.1:p.Lys1202Asn
XR_244571.2:n.3972A>C
XR_430568.2:n.4306A>C
XM_005262560.3:c.3549A>C	XP_005262617.1:p.Lys1183Asn
XM_005262561.3:c.3453A>C	XP_005262618.1:p.Lys1151Asn
XM_011531468.3:c.3606A>C	XP_011529770.1:p.Lys1202Asn
XM_024452495.1:c.1674A>C	XP_024308263.1:p.Lys558Asn
XM_024452496.1:c.1440A>C	XP_024308264.1:p.Lys480Asn
XR_001756009.2:n.4422A>C
XR_001756010.2:n.4422A>C
XR_001756011.2:n.4287A>C
XR_001756012.2:n.4435A>C
XR_001756013.2:n.3753A>C
XR_002958832.1:n.3854A>C
XR_002958834.1:n.4078A>C
XR_002958835.1:n.3961A>C
XR_002958836.1:n.4644A>C
XR_002958837.1:n.4451A>C
XR_244571.4:n.3971A>C
XR_430568.4:n.4305A>C
NM_001146706.2:c.3513A>C	NP_001140178.1:p.Lys1171Asn
NM_004653.5:c.3684A>C MANE Select	NP_004644.2:p.Lys1228Asn
NM_001146705.2:c.3777A>C	NP_001140177.1:p.Lys1259Asn