Canonical Allele Identifier: CA10644669

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36751622C>T , CM000683.2:g.36751622C>T	GRCh38
NC_000021.8:g.38123923C>T , CM000683.1:g.38123923C>T	GRCh37
NC_000021.7:g.37045793C>T	NCBI36
NG_016193.1:g.243614G>A
NG_029519.1:g.56933C>T
NG_016193.2:g.243773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.*2624G>A MANE Select	ENSP00000502087.2:n.*2624G>A
ENST00000674895.2:c.*2624G>A	ENSP00000502087.1:n.*2624G>A
ENST00000336648.8:c.*2624G>A	ENSP00000338387.3:n.*2624G>A
ENST00000399120.5:c.*2624G>A	ENSP00000382071.1:n.*2624G>A
ENST00000612277.4:c.*2624G>A	ENSP00000479939.1:n.*2624G>A
NM_000411.6:c.*2624G>A	NP_000402.3:n.*2624G>A
NM_001242784.1:c.*2624G>A	NP_001229713.1:n.*2624G>A
NM_001242785.1:c.*2624G>A	NP_001229714.1:n.*2624G>A
NM_000411.7:c.*2624G>A	NP_000402.3:n.*2624G>A
NM_001242784.2:c.*2624G>A	NP_001229713.1:n.*2624G>A
NM_001242785.2:c.*2624G>A	NP_001229714.1:n.*2624G>A
NM_001352514.1:c.*2624G>A	NP_001339443.1:n.*2624G>A
NM_001352515.1:c.*2624G>A	NP_001339444.1:n.*2624G>A
NM_001352516.1:c.*2624G>A	NP_001339445.1:n.*2624G>A
NM_001352517.1:c.*2624G>A	NP_001339446.1:n.*2624G>A
NM_001352518.1:c.*2624G>A	NP_001339447.1:n.*2624G>A
NR_148020.1:n.5513G>A
NR_148021.1:n.5487G>A
XM_017028330.1:c.*2624G>A	XP_016883819.1:n.*2624G>A
NM_000411.8:c.*2624G>A	NP_000402.3:n.*2624G>A
NM_001242784.3:c.*2624G>A	NP_001229713.1:n.*2624G>A
NM_001352514.2:c.*2624G>A MANE Select	NP_001339443.1:n.*2624G>A
NM_001352515.2:c.*2624G>A	NP_001339444.1:n.*2624G>A
NM_001352516.2:c.*2624G>A	NP_001339445.1:n.*2624G>A
NR_148020.2:n.5330G>A
NM_001352518.2:c.*2624G>A	NP_001339447.1:n.*2624G>A