Canonical Allele Identifier: CA10574982

Gene: KDM5D

Linked Data

• dbSNP Id: rs777038395
• ExAC: Y:21894600 G / A
• gnomAD v2: Y-21894600-G-A
• MyVariant Identifiers: chrY:g.21894600G>A (hg19) ; chrY:g.19732714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732714G>A , CM000686.2:g.19732714G>A	GRCh38
NC_000024.9:g.21894600G>A , CM000686.1:g.21894600G>A	GRCh37
NC_000024.8:g.20353988G>A	NCBI36
NG_032920.1:g.17226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.962C>T MANE Select	ENSP00000322408.4:p.Ser321Phe
ENST00000317961.8:c.962C>T	ENSP00000322408.4:p.Ser321Phe
ENST00000382806.6:c.791C>T	ENSP00000372256.2:p.Ser264Phe
ENST00000440077.5:c.839C>T	ENSP00000398543.1:p.Ser280Phe
ENST00000447300.1:c.827C>T	ENSP00000416377.1:p.Ser276Phe
ENST00000541639.5:c.962C>T	ENSP00000444293.1:p.Ser321Phe
NM_001146705.1:c.962C>T	NP_001140177.1:p.Ser321Phe
NM_001146706.1:c.791C>T	NP_001140178.1:p.Ser264Phe
NM_004653.4:c.962C>T	NP_004644.2:p.Ser321Phe
XM_005262560.1:c.827C>T	XP_005262617.1:p.Ser276Phe
XM_005262561.1:c.962C>T	XP_005262618.1:p.Ser321Phe
XM_005262562.2:c.962C>T	XP_005262619.1:p.Ser321Phe
XM_011531468.1:c.962C>T	XP_011529770.1:p.Ser321Phe
XR_244571.2:n.1250C>T
XR_430568.2:n.1250C>T
XR_938609.1:n.1250C>T
XR_938610.1:n.1250C>T
XM_005262560.3:c.827C>T	XP_005262617.1:p.Ser276Phe
XM_005262561.3:c.962C>T	XP_005262618.1:p.Ser321Phe
XM_011531468.3:c.962C>T	XP_011529770.1:p.Ser321Phe
XM_024452495.1:c.-1156C>T	XP_024308263.1:n.-1156C>T
XR_001756009.2:n.1249C>T
XR_001756010.2:n.1249C>T
XR_001756011.2:n.1114C>T
XR_001756012.2:n.1249C>T
XR_001756013.2:n.1249C>T
XR_002958832.1:n.1249C>T
XR_002958833.1:n.1249C>T
XR_002958834.1:n.1249C>T
XR_002958835.1:n.1249C>T
XR_002958836.1:n.1249C>T
XR_002958837.1:n.1249C>T
XR_244571.4:n.1249C>T
XR_430568.4:n.1249C>T
NM_001146706.2:c.791C>T	NP_001140178.1:p.Ser264Phe
NM_004653.5:c.962C>T MANE Select	NP_004644.2:p.Ser321Phe
NM_001146705.2:c.962C>T	NP_001140177.1:p.Ser321Phe