Canonical Allele Identifier: CA10574741

Gene: KDM5D

Linked Data

• dbSNP Id: rs759108320
• ExAC: Y:21869342 C / A
• gnomAD v2: Y-21869342-C-A
• MyVariant Identifiers: chrY:g.21869342C>A (hg19) ; chrY:g.19707456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707456C>A , CM000686.2:g.19707456C>A	GRCh38
NC_000024.9:g.21869342C>A , CM000686.1:g.21869342C>A	GRCh37
NC_000024.8:g.20328730C>A	NCBI36
NG_032920.1:g.42484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3690G>T MANE Select	ENSP00000322408.4:p.Leu1230=
ENST00000317961.8:c.3690G>T	ENSP00000322408.4:p.Leu1230=
ENST00000382806.6:c.3519G>T	ENSP00000372256.2:p.Leu1173=
ENST00000415360.1:c.606G>T	ENSP00000389433.1:p.Leu202=
ENST00000440077.5:c.3567G>T	ENSP00000398543.1:p.Leu1189=
ENST00000469599.6:n.2288G>T
ENST00000492117.1:n.3582G>T
ENST00000541639.5:c.3783G>T	ENSP00000444293.1:p.Leu1261=
NM_001146705.1:c.3783G>T	NP_001140177.1:p.Leu1261=
NM_001146706.1:c.3519G>T	NP_001140178.1:p.Leu1173=
NM_004653.4:c.3690G>T	NP_004644.2:p.Leu1230=
XM_005262560.1:c.3555G>T	XP_005262617.1:p.Leu1185=
XM_005262561.1:c.3459G>T	XP_005262618.1:p.Leu1153=
XM_011531468.1:c.3612G>T	XP_011529770.1:p.Leu1204=
XR_244571.2:n.3978G>T
XR_430568.2:n.4312G>T
XM_005262560.3:c.3555G>T	XP_005262617.1:p.Leu1185=
XM_005262561.3:c.3459G>T	XP_005262618.1:p.Leu1153=
XM_011531468.3:c.3612G>T	XP_011529770.1:p.Leu1204=
XM_024452495.1:c.1680G>T	XP_024308263.1:p.Leu560=
XM_024452496.1:c.1446G>T	XP_024308264.1:p.Leu482=
XR_001756009.2:n.4428G>T
XR_001756010.2:n.4428G>T
XR_001756011.2:n.4293G>T
XR_001756012.2:n.4441G>T
XR_001756013.2:n.3759G>T
XR_002958832.1:n.3860G>T
XR_002958834.1:n.4084G>T
XR_002958835.1:n.3967G>T
XR_002958836.1:n.4650G>T
XR_002958837.1:n.4457G>T
XR_244571.4:n.3977G>T
XR_430568.4:n.4311G>T
NM_001146706.2:c.3519G>T	NP_001140178.1:p.Leu1173=
NM_004653.5:c.3690G>T MANE Select	NP_004644.2:p.Leu1230=
NM_001146705.2:c.3783G>T	NP_001140177.1:p.Leu1261=