Canonical Allele Identifier: CA355362042

Gene: PARL

Linked Data

• dbSNP Id: rs1416850975
• gnomAD v2: 3-183585756-G-C
• gnomAD v3: 3-183867968-G-C
• gnomAD v4: 3-183867968-G-C
• MyVariant Identifiers: chr3:g.183585756G>C (hg19) ; chr3:g.183867968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183867968G>C , CM000665.2:g.183867968G>C	GRCh38
NC_000003.11:g.183585756G>C , CM000665.1:g.183585756G>C	GRCh37
NC_000003.10:g.185068450G>C	NCBI36
NG_046164.1:g.21938C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317096.9:c.218C>G MANE Select	ENSP00000325421.5:p.Ala73Gly
ENST00000638817.1:c.218C>G	ENSP00000492596.1:p.Ala73Gly
ENST00000639100.1:c.-476C>G	ENSP00000491186.1:n.-476C>G
ENST00000639401.1:c.218C>G	ENSP00000491227.1:p.Ala73Gly
ENST00000639900.1:c.218C>G	ENSP00000491109.1:p.Ala73Gly
ENST00000311101.9:c.218C>G	ENSP00000310676.5:p.Ala73Gly
ENST00000317096.8:c.218C>G	ENSP00000325421.4:p.Ala73Gly
ENST00000421484.5:c.218C>G	ENSP00000404421.1:p.Ala73Gly
ENST00000435888.5:c.218C>G	ENSP00000402137.1:p.Ala73Gly
ENST00000449306.1:c.99C>G
ENST00000469056.1:n.140C>G
NM_001037639.1:c.218C>G	NP_001032728.1:p.Ala73Gly
NM_018622.5:c.218C>G	NP_061092.3:p.Ala73Gly
XM_005247582.3:c.218C>G	XP_005247639.1:p.Ala73Gly
XM_005247584.3:c.218C>G	XP_005247641.1:p.Ala73Gly
NM_001037639.2:c.218C>G	NP_001032728.1:p.Ala73Gly
NM_001324436.1:c.218C>G	NP_001311365.1:p.Ala73Gly
NM_001324437.1:c.218C>G	NP_001311366.1:p.Ala73Gly
NM_001324438.1:c.218C>G	NP_001311367.1:p.Ala73Gly
NM_018622.6:c.218C>G	NP_061092.3:p.Ala73Gly
NR_136893.1:n.280C>G
XM_005247582.5:c.218C>G	XP_005247639.1:p.Ala73Gly
XM_017006800.2:c.218C>G	XP_016862289.1:p.Ala73Gly
XM_017006801.1:c.218C>G	XP_016862290.1:p.Ala73Gly
XM_017006802.1:c.218C>G	XP_016862291.1:p.Ala73Gly
XM_017006803.1:c.-412C>G	XP_016862292.1:n.-412C>G
XM_024453628.1:c.-356C>G	XP_024309396.1:n.-356C>G
XM_024453630.1:c.-476C>G	XP_024309398.1:n.-476C>G
XM_024453631.1:c.-532C>G	XP_024309399.1:n.-532C>G
XM_024453632.1:c.-532C>G	XP_024309400.1:n.-532C>G
XM_024453633.1:c.-476C>G	XP_024309401.1:n.-476C>G
NM_001037639.3:c.218C>G	NP_001032728.1:p.Ala73Gly
NM_001324436.2:c.218C>G	NP_001311365.1:p.Ala73Gly
NM_001324437.2:c.218C>G	NP_001311366.1:p.Ala73Gly
NM_001324438.2:c.218C>G	NP_001311367.1:p.Ala73Gly
NM_018622.7:c.218C>G MANE Select	NP_061092.3:p.Ala73Gly
NR_136893.2:n.252C>G