Canonical Allele Identifier: CA520516767
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869471C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707585C>A , CM000686.2:g.19707585C>A GRCh38
NC_000024.9:g.21869471C>A , CM000686.1:g.21869471C>A GRCh37
NC_000024.8:g.20328859C>A NCBI36
NG_032920.1:g.42355G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3561G>T MANE Select ENSP00000322408.4:p.Leu1187=
ENST00000317961.8:c.3561G>T ENSP00000322408.4:p.Leu1187=
ENST00000382806.6:c.3390G>T ENSP00000372256.2:p.Leu1130=
ENST00000415360.1:c.477G>T ENSP00000389433.1:p.Leu159=
ENST00000440077.5:c.3438G>T ENSP00000398543.1:p.Leu1146=
ENST00000469599.6:n.2159G>T
ENST00000492117.1:n.3453G>T
ENST00000541639.5:c.3654G>T ENSP00000444293.1:p.Leu1218=
NM_001146705.1:c.3654G>T NP_001140177.1:p.Leu1218=
NM_001146706.1:c.3390G>T NP_001140178.1:p.Leu1130=
NM_004653.4:c.3561G>T NP_004644.2:p.Leu1187=
XM_005262560.1:c.3426G>T XP_005262617.1:p.Leu1142=
XM_005262561.1:c.3330G>T XP_005262618.1:p.Leu1110=
XM_011531468.1:c.3483G>T XP_011529770.1:p.Leu1161=
XR_244571.2:n.3849G>T
XR_430568.2:n.4183G>T
XM_005262560.3:c.3426G>T XP_005262617.1:p.Leu1142=
XM_005262561.3:c.3330G>T XP_005262618.1:p.Leu1110=
XM_011531468.3:c.3483G>T XP_011529770.1:p.Leu1161=
XM_024452495.1:c.1551G>T XP_024308263.1:p.Leu517=
XM_024452496.1:c.1317G>T XP_024308264.1:p.Leu439=
XR_001756009.2:n.4299G>T
XR_001756010.2:n.4299G>T
XR_001756011.2:n.4164G>T
XR_001756012.2:n.4312G>T
XR_001756013.2:n.3630G>T
XR_002958832.1:n.3731G>T
XR_002958834.1:n.3955G>T
XR_002958835.1:n.3838G>T
XR_002958836.1:n.4521G>T
XR_002958837.1:n.4328G>T
XR_244571.4:n.3848G>T
XR_430568.4:n.4182G>T
NM_001146706.2:c.3390G>T NP_001140178.1:p.Leu1130=
NM_004653.5:c.3561G>T MANE Select NP_004644.2:p.Leu1187=
NM_001146705.2:c.3654G>T NP_001140177.1:p.Leu1218=