Canonical Allele Identifier: CA10574770

Gene: KDM5D

Linked Data

• dbSNP Id: rs752825978
• ExAC: Y:21869946 C / T
• gnomAD v2: Y-21869946-C-T
• MyVariant Identifiers: chrY:g.21869946C>T (hg19) ; chrY:g.19708060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708060C>T , CM000686.2:g.19708060C>T	GRCh38
NC_000024.9:g.21869946C>T , CM000686.1:g.21869946C>T	GRCh37
NC_000024.8:g.20329334C>T	NCBI36
NG_032920.1:g.41880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3273G>A MANE Select	ENSP00000322408.4:p.Pro1091=
ENST00000317961.8:c.3273G>A	ENSP00000322408.4:p.Pro1091=
ENST00000382806.6:c.3102G>A	ENSP00000372256.2:p.Pro1034=
ENST00000415360.1:c.189G>A	ENSP00000389433.1:p.Pro63=
ENST00000440077.5:c.3150G>A	ENSP00000398543.1:p.Pro1050=
ENST00000469599.6:n.1871G>A
ENST00000492117.1:n.3165G>A
ENST00000541639.5:c.3366G>A	ENSP00000444293.1:p.Pro1122=
NM_001146705.1:c.3366G>A	NP_001140177.1:p.Pro1122=
NM_001146706.1:c.3102G>A	NP_001140178.1:p.Pro1034=
NM_004653.4:c.3273G>A	NP_004644.2:p.Pro1091=
XM_005262560.1:c.3138G>A	XP_005262617.1:p.Pro1046=
XM_005262561.1:c.3042G>A	XP_005262618.1:p.Pro1014=
XM_011531468.1:c.3195G>A	XP_011529770.1:p.Pro1065=
XR_244571.2:n.3561G>A
XR_430568.2:n.3895G>A
XM_005262560.3:c.3138G>A	XP_005262617.1:p.Pro1046=
XM_005262561.3:c.3042G>A	XP_005262618.1:p.Pro1014=
XM_011531468.3:c.3195G>A	XP_011529770.1:p.Pro1065=
XM_024452495.1:c.1263G>A	XP_024308263.1:p.Pro421=
XM_024452496.1:c.1029G>A	XP_024308264.1:p.Pro343=
XR_001756009.2:n.4011G>A
XR_001756010.2:n.4011G>A
XR_001756011.2:n.3876G>A
XR_001756012.2:n.4024G>A
XR_001756013.2:n.3342G>A
XR_002958832.1:n.3443G>A
XR_002958834.1:n.3667G>A
XR_002958835.1:n.3550G>A
XR_002958836.1:n.4233G>A
XR_002958837.1:n.4040G>A
XR_244571.4:n.3560G>A
XR_430568.4:n.3894G>A
NM_001146706.2:c.3102G>A	NP_001140178.1:p.Pro1034=
NM_004653.5:c.3273G>A MANE Select	NP_004644.2:p.Pro1091=
NM_001146705.2:c.3366G>A	NP_001140177.1:p.Pro1122=