Canonical Allele Identifier: CA414844281

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869834C>G (hg19) ; chrY:g.19707948C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707948C>G , CM000686.2:g.19707948C>G	GRCh38
NC_000024.9:g.21869834C>G , CM000686.1:g.21869834C>G	GRCh37
NC_000024.8:g.20329222C>G	NCBI36
NG_032920.1:g.41992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3385G>C MANE Select	ENSP00000322408.4:p.Asp1129His
ENST00000317961.8:c.3385G>C	ENSP00000322408.4:p.Asp1129His
ENST00000382806.6:c.3214G>C	ENSP00000372256.2:p.Asp1072His
ENST00000415360.1:c.301G>C	ENSP00000389433.1:p.Asp101His
ENST00000440077.5:c.3262G>C	ENSP00000398543.1:p.Asp1088His
ENST00000469599.6:n.1983G>C
ENST00000492117.1:n.3277G>C
ENST00000541639.5:c.3478G>C	ENSP00000444293.1:p.Asp1160His
NM_001146705.1:c.3478G>C	NP_001140177.1:p.Asp1160His
NM_001146706.1:c.3214G>C	NP_001140178.1:p.Asp1072His
NM_004653.4:c.3385G>C	NP_004644.2:p.Asp1129His
XM_005262560.1:c.3250G>C	XP_005262617.1:p.Asp1084His
XM_005262561.1:c.3154G>C	XP_005262618.1:p.Asp1052His
XM_011531468.1:c.3307G>C	XP_011529770.1:p.Asp1103His
XR_244571.2:n.3673G>C
XR_430568.2:n.4007G>C
XM_005262560.3:c.3250G>C	XP_005262617.1:p.Asp1084His
XM_005262561.3:c.3154G>C	XP_005262618.1:p.Asp1052His
XM_011531468.3:c.3307G>C	XP_011529770.1:p.Asp1103His
XM_024452495.1:c.1375G>C	XP_024308263.1:p.Asp459His
XM_024452496.1:c.1141G>C	XP_024308264.1:p.Asp381His
XR_001756009.2:n.4123G>C
XR_001756010.2:n.4123G>C
XR_001756011.2:n.3988G>C
XR_001756012.2:n.4136G>C
XR_001756013.2:n.3454G>C
XR_002958832.1:n.3555G>C
XR_002958834.1:n.3779G>C
XR_002958835.1:n.3662G>C
XR_002958836.1:n.4345G>C
XR_002958837.1:n.4152G>C
XR_244571.4:n.3672G>C
XR_430568.4:n.4006G>C
NM_001146706.2:c.3214G>C	NP_001140178.1:p.Asp1072His
NM_004653.5:c.3385G>C MANE Select	NP_004644.2:p.Asp1129His
NM_001146705.2:c.3478G>C	NP_001140177.1:p.Asp1160His