Canonical Allele Identifier: CA414841399

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21894473C>A (hg19) ; chrY:g.19732587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732587C>A , CM000686.2:g.19732587C>A	GRCh38
NC_000024.9:g.21894473C>A , CM000686.1:g.21894473C>A	GRCh37
NC_000024.8:g.20353861C>A	NCBI36
NG_032920.1:g.17353G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1089G>T MANE Select	ENSP00000322408.4:p.Leu363Phe
ENST00000317961.8:c.1089G>T	ENSP00000322408.4:p.Leu363Phe
ENST00000382806.6:c.918G>T	ENSP00000372256.2:p.Leu306Phe
ENST00000440077.5:c.966G>T	ENSP00000398543.1:p.Leu322Phe
ENST00000447300.1:c.954G>T	ENSP00000416377.1:p.Leu318Phe
ENST00000541639.5:c.1089G>T	ENSP00000444293.1:p.Leu363Phe
NM_001146705.1:c.1089G>T	NP_001140177.1:p.Leu363Phe
NM_001146706.1:c.918G>T	NP_001140178.1:p.Leu306Phe
NM_004653.4:c.1089G>T	NP_004644.2:p.Leu363Phe
XM_005262560.1:c.954G>T	XP_005262617.1:p.Leu318Phe
XM_005262561.1:c.1089G>T	XP_005262618.1:p.Leu363Phe
XM_005262562.2:c.1089G>T	XP_005262619.1:p.Leu363Phe
XM_011531468.1:c.1089G>T	XP_011529770.1:p.Leu363Phe
XR_244571.2:n.1377G>T
XR_430568.2:n.1377G>T
XR_938609.1:n.1377G>T
XR_938610.1:n.1377G>T
XM_005262560.3:c.954G>T	XP_005262617.1:p.Leu318Phe
XM_005262561.3:c.1089G>T	XP_005262618.1:p.Leu363Phe
XM_011531468.3:c.1089G>T	XP_011529770.1:p.Leu363Phe
XM_024452495.1:c.-1029G>T	XP_024308263.1:n.-1029G>T
XR_001756009.2:n.1376G>T
XR_001756010.2:n.1376G>T
XR_001756011.2:n.1241G>T
XR_001756012.2:n.1376G>T
XR_001756013.2:n.1376G>T
XR_002958832.1:n.1376G>T
XR_002958833.1:n.1376G>T
XR_002958834.1:n.1376G>T
XR_002958835.1:n.1376G>T
XR_002958836.1:n.1376G>T
XR_002958837.1:n.1376G>T
XR_244571.4:n.1376G>T
XR_430568.4:n.1376G>T
NM_001146706.2:c.918G>T	NP_001140178.1:p.Leu306Phe
NM_004653.5:c.1089G>T MANE Select	NP_004644.2:p.Leu363Phe
NM_001146705.2:c.1089G>T	NP_001140177.1:p.Leu363Phe