Canonical Allele Identifier: CA414843604

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869453C>G (hg19) ; chrY:g.19707567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707567C>G , CM000686.2:g.19707567C>G	GRCh38
NC_000024.9:g.21869453C>G , CM000686.1:g.21869453C>G	GRCh37
NC_000024.8:g.20328841C>G	NCBI36
NG_032920.1:g.42373G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3579G>C MANE Select	ENSP00000322408.4:p.Gln1193His
ENST00000317961.8:c.3579G>C	ENSP00000322408.4:p.Gln1193His
ENST00000382806.6:c.3408G>C	ENSP00000372256.2:p.Gln1136His
ENST00000415360.1:c.495G>C	ENSP00000389433.1:p.Gln165His
ENST00000440077.5:c.3456G>C	ENSP00000398543.1:p.Gln1152His
ENST00000469599.6:n.2177G>C
ENST00000492117.1:n.3471G>C
ENST00000541639.5:c.3672G>C	ENSP00000444293.1:p.Gln1224His
NM_001146705.1:c.3672G>C	NP_001140177.1:p.Gln1224His
NM_001146706.1:c.3408G>C	NP_001140178.1:p.Gln1136His
NM_004653.4:c.3579G>C	NP_004644.2:p.Gln1193His
XM_005262560.1:c.3444G>C	XP_005262617.1:p.Gln1148His
XM_005262561.1:c.3348G>C	XP_005262618.1:p.Gln1116His
XM_011531468.1:c.3501G>C	XP_011529770.1:p.Gln1167His
XR_244571.2:n.3867G>C
XR_430568.2:n.4201G>C
XM_005262560.3:c.3444G>C	XP_005262617.1:p.Gln1148His
XM_005262561.3:c.3348G>C	XP_005262618.1:p.Gln1116His
XM_011531468.3:c.3501G>C	XP_011529770.1:p.Gln1167His
XM_024452495.1:c.1569G>C	XP_024308263.1:p.Gln523His
XM_024452496.1:c.1335G>C	XP_024308264.1:p.Gln445His
XR_001756009.2:n.4317G>C
XR_001756010.2:n.4317G>C
XR_001756011.2:n.4182G>C
XR_001756012.2:n.4330G>C
XR_001756013.2:n.3648G>C
XR_002958832.1:n.3749G>C
XR_002958834.1:n.3973G>C
XR_002958835.1:n.3856G>C
XR_002958836.1:n.4539G>C
XR_002958837.1:n.4346G>C
XR_244571.4:n.3866G>C
XR_430568.4:n.4200G>C
NM_001146706.2:c.3408G>C	NP_001140178.1:p.Gln1136His
NM_004653.5:c.3579G>C MANE Select	NP_004644.2:p.Gln1193His
NM_001146705.2:c.3672G>C	NP_001140177.1:p.Gln1224His