Canonical Allele Identifier: CA3226317

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs770956608
• ExAC: 5:34008136 G / A
• gnomAD v2: 5-34008136-G-A
• gnomAD v3: 5-34008031-G-A
• gnomAD v4: 5-34008031-G-A
• MyVariant Identifiers: chr5:g.34008136G>A (hg19) ; chr5:g.34008031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008031G>A , CM000667.2:g.34008031G>A	GRCh38
NC_000005.9:g.34008136G>A , CM000667.1:g.34008136G>A	GRCh37
NC_000005.8:g.34043893G>A	NCBI36
NG_016211.1:g.5085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.-12C>T (AMACR) MANE Select	ENSP00000334424.6:n.-12C>T
ENST00000335606.10:c.-12C>T (AMACR)	ENSP00000334424.6:n.-12C>T
ENST00000382072.6:c.-12C>T (AMACR)	ENSP00000371504.2:n.-12C>T
ENST00000382079.3:c.690-2132C>T (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2132C>T
ENST00000426255.6:c.-12C>T (AMACR)	ENSP00000476965.1:n.-12C>T
ENST00000502637.5:c.-12C>T (AMACR)	ENSP00000424351.1:n.-12C>T
ENST00000506639.5:c.-12C>T (AMACR)	ENSP00000427227.1:n.-12C>T
ENST00000514195.1:n.1C>T (AMACR)
NM_001167595.1:c.-12C>T (AMACR)	NP_001161067.1:n.-12C>T
NM_014324.5:c.-12C>T (AMACR)	NP_055139.4:n.-12C>T
NM_203382.2:c.-12C>T (AMACR)	NP_976316.1:n.-12C>T
NR_037951.1:n.765-2132C>T (C1QTNF3-AMACR)
NM_014324.6:c.-12C>T (AMACR) MANE Select	NP_055139.4:n.-12C>T
NM_001167595.2:c.-12C>T (AMACR)	NP_001161067.1:n.-12C>T
NM_203382.3:c.-12C>T (AMACR)	NP_976316.1:n.-12C>T