Canonical Allele Identifier: CA312626

Gene: HLCS

Linked Data

• dbSNP Id: rs149733264
• gnomAD v2: 21-38126659-T-A
• gnomAD v3: 21-36754358-T-A
• gnomAD v4: 21-36754358-T-A
• MyVariant Identifiers: chr21:g.38126659T>A (hg19) ; chr21:g.36754358T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36754358T>A , CM000683.2:g.36754358T>A	GRCh38
NC_000021.8:g.38126659T>A , CM000683.1:g.38126659T>A	GRCh37
NC_000021.7:g.37048529T>A	NCBI36
NG_016193.1:g.240878A>T
NG_016193.2:g.241037A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000674895.3:c.2510A>T MANE Select	ENSP00000502087.2:p.Asp837Val
ENST00000674895.2:c.2069A>T	ENSP00000502087.1:p.Asp690Val
ENST00000675057.1:c.*479A>T	ENSP00000501832.1:n.*479A>T
ENST00000675307.1:c.2069A>T	ENSP00000501750.1:p.Asp690Val
ENST00000336648.8:c.2069A>T	ENSP00000338387.3:p.Asp690Val
ENST00000399120.5:c.2069A>T	ENSP00000382071.1:p.Asp690Val
ENST00000612277.4:c.2069A>T	ENSP00000479939.1:p.Asp690Val
NM_000411.6:c.2069A>T	NP_000402.3:p.Asp690Val
NM_001242784.1:c.2069A>T	NP_001229713.1:p.Asp690Val
NM_001242785.1:c.2069A>T	NP_001229714.1:p.Asp690Val
XM_005260953.2:c.2510A>T	XP_005261010.1:p.Asp837Val
XM_005260955.2:c.2069A>T	XP_005261012.1:p.Asp690Val
XM_005260956.2:c.2069A>T	XP_005261013.1:p.Asp690Val
XM_006723994.1:c.2069A>T	XP_006724057.1:p.Asp690Val
XM_006723995.1:c.2069A>T	XP_006724058.1:p.Asp690Val
XM_011529538.1:c.2069A>T	XP_011527840.1:p.Asp690Val
XM_011529539.1:c.2069A>T	XP_011527841.1:p.Asp690Val
XM_011529541.1:c.2069A>T	XP_011527843.1:p.Asp690Val
NM_000411.7:c.2069A>T	NP_000402.3:p.Asp690Val
NM_001242784.2:c.2069A>T	NP_001229713.1:p.Asp690Val
NM_001242785.2:c.2069A>T	NP_001229714.1:p.Asp690Val
NM_001352514.1:c.2510A>T	NP_001339443.1:p.Asp837Val
NM_001352515.1:c.2069A>T	NP_001339444.1:p.Asp690Val
NM_001352516.1:c.2069A>T	NP_001339445.1:p.Asp690Val
NM_001352517.1:c.2069A>T	NP_001339446.1:p.Asp690Val
NM_001352518.1:c.2069A>T	NP_001339447.1:p.Asp690Val
NR_148020.1:n.2777A>T
NR_148021.1:n.2751A>T
XM_011529539.3:c.2069A>T	XP_011527841.1:p.Asp690Val
XM_017028330.1:c.2069A>T	XP_016883819.1:p.Asp690Val
XM_024452065.1:c.1898A>T	XP_024307833.1:p.Asp633Val
XM_024452066.1:c.1898A>T	XP_024307834.1:p.Asp633Val
XR_001754835.1:n.2736A>T
XR_001754836.1:n.2350A>T
XR_001754840.1:n.2560A>T
NM_000411.8:c.2069A>T	NP_000402.3:p.Asp690Val
NM_001242784.3:c.2069A>T	NP_001229713.1:p.Asp690Val
NM_001352514.2:c.2510A>T MANE Select	NP_001339443.1:p.Asp837Val
NM_001352515.2:c.2069A>T	NP_001339444.1:p.Asp690Val
NM_001352516.2:c.2069A>T	NP_001339445.1:p.Asp690Val
NR_148020.2:n.2594A>T
NM_001352518.2:c.2069A>T	NP_001339447.1:p.Asp690Val