Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693652T>A , CM000676.2:g.20693652T>A	GRCh38
NC_000014.8:g.21161811T>A , CM000676.1:g.21161811T>A	GRCh37
NC_000014.7:g.20231651T>A	NCBI36
NG_008717.2:g.14476T>A , LRG_653:g.14476T>A
NG_033053.1:g.14440T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397990.5:c.88T>A (ANG) MANE Select	ENSP00000381077.4:p.Tyr30Asn
ENST00000555835.3:c.-17-5703T>A (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5703T>A
ENST00000336811.10:c.88T>A (ANG)	ENSP00000336762.6:p.Tyr30Asn
ENST00000397990.4:c.88T>A (ANG)	ENSP00000381077.4:p.Tyr30Asn
ENST00000397995.2:c.-17-5703T>A (RNASE4)	ENSP00000381081.2:n.-17-5703T>A
ENST00000553909.1:c.86+2T>A	ENSP00000477037.1:n.86+2T>A
ENST00000554073.1:n.146-5214T>A (ANG)
ENST00000555597.1:c.-18+4778T>A (RNASE4)	ENSP00000451624.1:n.-18+4778T>A
ENST00000555835.2:c.-17-5703T>A (RNASE4)	ENSP00000452245.1:n.-17-5703T>A
NM_001097577.2:c.88T>A (ANG)	NP_001091046.1:p.Tyr30Asn
NM_001145.4:c.88T>A , LRG_653t1:c.88T>A (ANG)	NP_001136.1:p.Tyr30Asn
NM_001282192.1:c.-18+2T>A (RNASE4)	NP_001269121.1:n.-18+2T>A
NM_001282193.1:c.-17-5703T>A (RNASE4)	NP_001269122.1:n.-17-5703T>A
NM_002937.4:c.-17-5703T>A (RNASE4)	NP_002928.1:n.-17-5703T>A
NM_194431.2:c.-18+4778T>A (RNASE4)	NP_919412.1:n.-18+4778T>A
NM_002937.5:c.-17-5703T>A (RNASE4) MANE Select	NP_002928.1:n.-17-5703T>A
NM_001097577.3:c.88T>A (ANG) MANE Select	NP_001091046.1:p.Tyr30Asn
NM_001282192.2:c.-18+2T>A (RNASE4)	NP_001269121.1:n.-18+2T>A
NM_001282193.2:c.-17-5703T>A (RNASE4)	NP_001269122.1:n.-17-5703T>A
NM_194431.3:c.-18+4778T>A (RNASE4)	NP_919412.1:n.-18+4778T>A
NM_001385271.1:c.88T>A (ANG)	NP_001372200.1:p.Tyr30Asn
NM_001385272.1:c.88T>A (ANG)	NP_001372201.1:p.Tyr30Asn
NM_001385273.1:c.88T>A (ANG)	NP_001372202.1:p.Tyr30Asn
NM_001385274.1:c.88T>A (ANG)	NP_001372203.1:p.Tyr30Asn
NR_174964.1:n.564A>T (EGILA)

Linked Data

Genomic Alleles

Transcript Alleles