Canonical Allele Identifier: CA414843785

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869500C>A (hg19) ; chrY:g.19707614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707614C>A , CM000686.2:g.19707614C>A	GRCh38
NC_000024.9:g.21869500C>A , CM000686.1:g.21869500C>A	GRCh37
NC_000024.8:g.20328888C>A	NCBI36
NG_032920.1:g.42326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3532G>T MANE Select	ENSP00000322408.4:p.Gly1178Trp
ENST00000317961.8:c.3532G>T	ENSP00000322408.4:p.Gly1178Trp
ENST00000382806.6:c.3361G>T	ENSP00000372256.2:p.Gly1121Trp
ENST00000415360.1:c.448G>T	ENSP00000389433.1:p.Gly150Trp
ENST00000440077.5:c.3409G>T	ENSP00000398543.1:p.Gly1137Trp
ENST00000469599.6:n.2130G>T
ENST00000492117.1:n.3424G>T
ENST00000541639.5:c.3625G>T	ENSP00000444293.1:p.Gly1209Trp
NM_001146705.1:c.3625G>T	NP_001140177.1:p.Gly1209Trp
NM_001146706.1:c.3361G>T	NP_001140178.1:p.Gly1121Trp
NM_004653.4:c.3532G>T	NP_004644.2:p.Gly1178Trp
XM_005262560.1:c.3397G>T	XP_005262617.1:p.Gly1133Trp
XM_005262561.1:c.3301G>T	XP_005262618.1:p.Gly1101Trp
XM_011531468.1:c.3454G>T	XP_011529770.1:p.Gly1152Trp
XR_244571.2:n.3820G>T
XR_430568.2:n.4154G>T
XM_005262560.3:c.3397G>T	XP_005262617.1:p.Gly1133Trp
XM_005262561.3:c.3301G>T	XP_005262618.1:p.Gly1101Trp
XM_011531468.3:c.3454G>T	XP_011529770.1:p.Gly1152Trp
XM_024452495.1:c.1522G>T	XP_024308263.1:p.Gly508Trp
XM_024452496.1:c.1288G>T	XP_024308264.1:p.Gly430Trp
XR_001756009.2:n.4270G>T
XR_001756010.2:n.4270G>T
XR_001756011.2:n.4135G>T
XR_001756012.2:n.4283G>T
XR_001756013.2:n.3601G>T
XR_002958832.1:n.3702G>T
XR_002958834.1:n.3926G>T
XR_002958835.1:n.3809G>T
XR_002958836.1:n.4492G>T
XR_002958837.1:n.4299G>T
XR_244571.4:n.3819G>T
XR_430568.4:n.4153G>T
NM_001146706.2:c.3361G>T	NP_001140178.1:p.Gly1121Trp
NM_004653.5:c.3532G>T MANE Select	NP_004644.2:p.Gly1178Trp
NM_001146705.2:c.3625G>T	NP_001140177.1:p.Gly1209Trp