Canonical Allele Identifier: CA414843228

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869350T>C (hg19) ; chrY:g.19707464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707464T>C , CM000686.2:g.19707464T>C	GRCh38
NC_000024.9:g.21869350T>C , CM000686.1:g.21869350T>C	GRCh37
NC_000024.8:g.20328738T>C	NCBI36
NG_032920.1:g.42476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3682A>G MANE Select	ENSP00000322408.4:p.Lys1228Glu
ENST00000317961.8:c.3682A>G	ENSP00000322408.4:p.Lys1228Glu
ENST00000382806.6:c.3511A>G	ENSP00000372256.2:p.Lys1171Glu
ENST00000415360.1:c.598A>G	ENSP00000389433.1:p.Lys200Glu
ENST00000440077.5:c.3559A>G	ENSP00000398543.1:p.Lys1187Glu
ENST00000469599.6:n.2280A>G
ENST00000492117.1:n.3574A>G
ENST00000541639.5:c.3775A>G	ENSP00000444293.1:p.Lys1259Glu
NM_001146705.1:c.3775A>G	NP_001140177.1:p.Lys1259Glu
NM_001146706.1:c.3511A>G	NP_001140178.1:p.Lys1171Glu
NM_004653.4:c.3682A>G	NP_004644.2:p.Lys1228Glu
XM_005262560.1:c.3547A>G	XP_005262617.1:p.Lys1183Glu
XM_005262561.1:c.3451A>G	XP_005262618.1:p.Lys1151Glu
XM_011531468.1:c.3604A>G	XP_011529770.1:p.Lys1202Glu
XR_244571.2:n.3970A>G
XR_430568.2:n.4304A>G
XM_005262560.3:c.3547A>G	XP_005262617.1:p.Lys1183Glu
XM_005262561.3:c.3451A>G	XP_005262618.1:p.Lys1151Glu
XM_011531468.3:c.3604A>G	XP_011529770.1:p.Lys1202Glu
XM_024452495.1:c.1672A>G	XP_024308263.1:p.Lys558Glu
XM_024452496.1:c.1438A>G	XP_024308264.1:p.Lys480Glu
XR_001756009.2:n.4420A>G
XR_001756010.2:n.4420A>G
XR_001756011.2:n.4285A>G
XR_001756012.2:n.4433A>G
XR_001756013.2:n.3751A>G
XR_002958832.1:n.3852A>G
XR_002958834.1:n.4076A>G
XR_002958835.1:n.3959A>G
XR_002958836.1:n.4642A>G
XR_002958837.1:n.4449A>G
XR_244571.4:n.3969A>G
XR_430568.4:n.4303A>G
NM_001146706.2:c.3511A>G	NP_001140178.1:p.Lys1171Glu
NM_004653.5:c.3682A>G MANE Select	NP_004644.2:p.Lys1228Glu
NM_001146705.2:c.3775A>G	NP_001140177.1:p.Lys1259Glu