Canonical Allele Identifier: CA520160827
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869855G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707969G>A , CM000686.2:g.19707969G>A GRCh38
NC_000024.9:g.21869855G>A , CM000686.1:g.21869855G>A GRCh37
NC_000024.8:g.20329243G>A NCBI36
NG_032920.1:g.41971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3364C>T MANE Select ENSP00000322408.4:p.Leu1122=
ENST00000317961.8:c.3364C>T ENSP00000322408.4:p.Leu1122=
ENST00000382806.6:c.3193C>T ENSP00000372256.2:p.Leu1065=
ENST00000415360.1:c.280C>T ENSP00000389433.1:p.Leu94=
ENST00000440077.5:c.3241C>T ENSP00000398543.1:p.Leu1081=
ENST00000469599.6:n.1962C>T
ENST00000492117.1:n.3256C>T
ENST00000541639.5:c.3457C>T ENSP00000444293.1:p.Leu1153=
NM_001146705.1:c.3457C>T NP_001140177.1:p.Leu1153=
NM_001146706.1:c.3193C>T NP_001140178.1:p.Leu1065=
NM_004653.4:c.3364C>T NP_004644.2:p.Leu1122=
XM_005262560.1:c.3229C>T XP_005262617.1:p.Leu1077=
XM_005262561.1:c.3133C>T XP_005262618.1:p.Leu1045=
XM_011531468.1:c.3286C>T XP_011529770.1:p.Leu1096=
XR_244571.2:n.3652C>T
XR_430568.2:n.3986C>T
XM_005262560.3:c.3229C>T XP_005262617.1:p.Leu1077=
XM_005262561.3:c.3133C>T XP_005262618.1:p.Leu1045=
XM_011531468.3:c.3286C>T XP_011529770.1:p.Leu1096=
XM_024452495.1:c.1354C>T XP_024308263.1:p.Leu452=
XM_024452496.1:c.1120C>T XP_024308264.1:p.Leu374=
XR_001756009.2:n.4102C>T
XR_001756010.2:n.4102C>T
XR_001756011.2:n.3967C>T
XR_001756012.2:n.4115C>T
XR_001756013.2:n.3433C>T
XR_002958832.1:n.3534C>T
XR_002958834.1:n.3758C>T
XR_002958835.1:n.3641C>T
XR_002958836.1:n.4324C>T
XR_002958837.1:n.4131C>T
XR_244571.4:n.3651C>T
XR_430568.4:n.3985C>T
NM_001146706.2:c.3193C>T NP_001140178.1:p.Leu1065=
NM_004653.5:c.3364C>T MANE Select NP_004644.2:p.Leu1122=
NM_001146705.2:c.3457C>T NP_001140177.1:p.Leu1153=