Canonical Allele Identifier: CA414843767

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869495C>A (hg19) ; chrY:g.19707609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707609C>A , CM000686.2:g.19707609C>A	GRCh38
NC_000024.9:g.21869495C>A , CM000686.1:g.21869495C>A	GRCh37
NC_000024.8:g.20328883C>A	NCBI36
NG_032920.1:g.42331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3537G>T MANE Select	ENSP00000322408.4:p.Gln1179His
ENST00000317961.8:c.3537G>T	ENSP00000322408.4:p.Gln1179His
ENST00000382806.6:c.3366G>T	ENSP00000372256.2:p.Gln1122His
ENST00000415360.1:c.453G>T	ENSP00000389433.1:p.Gln151His
ENST00000440077.5:c.3414G>T	ENSP00000398543.1:p.Gln1138His
ENST00000469599.6:n.2135G>T
ENST00000492117.1:n.3429G>T
ENST00000541639.5:c.3630G>T	ENSP00000444293.1:p.Gln1210His
NM_001146705.1:c.3630G>T	NP_001140177.1:p.Gln1210His
NM_001146706.1:c.3366G>T	NP_001140178.1:p.Gln1122His
NM_004653.4:c.3537G>T	NP_004644.2:p.Gln1179His
XM_005262560.1:c.3402G>T	XP_005262617.1:p.Gln1134His
XM_005262561.1:c.3306G>T	XP_005262618.1:p.Gln1102His
XM_011531468.1:c.3459G>T	XP_011529770.1:p.Gln1153His
XR_244571.2:n.3825G>T
XR_430568.2:n.4159G>T
XM_005262560.3:c.3402G>T	XP_005262617.1:p.Gln1134His
XM_005262561.3:c.3306G>T	XP_005262618.1:p.Gln1102His
XM_011531468.3:c.3459G>T	XP_011529770.1:p.Gln1153His
XM_024452495.1:c.1527G>T	XP_024308263.1:p.Gln509His
XM_024452496.1:c.1293G>T	XP_024308264.1:p.Gln431His
XR_001756009.2:n.4275G>T
XR_001756010.2:n.4275G>T
XR_001756011.2:n.4140G>T
XR_001756012.2:n.4288G>T
XR_001756013.2:n.3606G>T
XR_002958832.1:n.3707G>T
XR_002958834.1:n.3931G>T
XR_002958835.1:n.3814G>T
XR_002958836.1:n.4497G>T
XR_002958837.1:n.4304G>T
XR_244571.4:n.3824G>T
XR_430568.4:n.4158G>T
NM_001146706.2:c.3366G>T	NP_001140178.1:p.Gln1122His
NM_004653.5:c.3537G>T MANE Select	NP_004644.2:p.Gln1179His
NM_001146705.2:c.3630G>T	NP_001140177.1:p.Gln1210His