Canonical Allele Identifier: CA414843227

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3682A>T MANE Select	ENSP00000322408.4:p.Lys1228Ter
ENST00000317961.8:c.3682A>T	ENSP00000322408.4:p.Lys1228Ter
ENST00000382806.6:c.3511A>T	ENSP00000372256.2:p.Lys1171Ter
ENST00000415360.1:c.598A>T	ENSP00000389433.1:p.Lys200Ter
ENST00000440077.5:c.3559A>T	ENSP00000398543.1:p.Lys1187Ter
ENST00000469599.6:n.2280A>T
ENST00000492117.1:n.3574A>T
ENST00000541639.5:c.3775A>T	ENSP00000444293.1:p.Lys1259Ter
NM_001146705.1:c.3775A>T	NP_001140177.1:p.Lys1259Ter
NM_001146706.1:c.3511A>T	NP_001140178.1:p.Lys1171Ter
NM_004653.4:c.3682A>T	NP_004644.2:p.Lys1228Ter
XM_005262560.1:c.3547A>T	XP_005262617.1:p.Lys1183Ter
XM_005262561.1:c.3451A>T	XP_005262618.1:p.Lys1151Ter
XM_011531468.1:c.3604A>T	XP_011529770.1:p.Lys1202Ter
XR_244571.2:n.3970A>T
XR_430568.2:n.4304A>T
XM_005262560.3:c.3547A>T	XP_005262617.1:p.Lys1183Ter
XM_005262561.3:c.3451A>T	XP_005262618.1:p.Lys1151Ter
XM_011531468.3:c.3604A>T	XP_011529770.1:p.Lys1202Ter
XM_024452495.1:c.1672A>T	XP_024308263.1:p.Lys558Ter
XM_024452496.1:c.1438A>T	XP_024308264.1:p.Lys480Ter
XR_001756009.2:n.4420A>T
XR_001756010.2:n.4420A>T
XR_001756011.2:n.4285A>T
XR_001756012.2:n.4433A>T
XR_001756013.2:n.3751A>T
XR_002958832.1:n.3852A>T
XR_002958834.1:n.4076A>T
XR_002958835.1:n.3959A>T
XR_002958836.1:n.4642A>T
XR_002958837.1:n.4449A>T
XR_244571.4:n.3969A>T
XR_430568.4:n.4303A>T
NM_001146706.2:c.3511A>T	NP_001140178.1:p.Lys1171Ter
NM_004653.5:c.3682A>T MANE Select	NP_004644.2:p.Lys1228Ter
NM_001146705.2:c.3775A>T	NP_001140177.1:p.Lys1259Ter