Canonical Allele Identifier: CA357955871

Gene: BANK1

Linked Data

• dbSNP Id: rs1337372347
• gnomAD v4: 4-101918031-G-A
• MyVariant Identifiers: chr4:g.102839188G>A (hg19) ; chr4:g.101918031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918031G>A , CM000666.2:g.101918031G>A	GRCh38
NC_000004.11:g.102839188G>A , CM000666.1:g.102839188G>A	GRCh37
NC_000004.10:g.103058211G>A	NCBI36
NG_015824.1:g.132425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.1048G>A MANE Select	ENSP00000320509.4:p.Ala350Thr
ENST00000322953.8:c.1048G>A	ENSP00000320509.4:p.Ala350Thr
ENST00000428908.5:c.649G>A	ENSP00000412748.1:p.Ala217Thr
ENST00000444316.2:c.958G>A	ENSP00000388817.2:p.Ala320Thr
ENST00000504592.5:c.1003G>A	ENSP00000421443.1:p.Ala335Thr
ENST00000508653.5:c.649G>A	ENSP00000422314.1:p.Ala217Thr
NM_001083907.2:c.958G>A	NP_001077376.2:p.Ala320Thr
NM_001127507.2:c.649G>A	NP_001120979.2:p.Ala217Thr
NM_017935.4:c.1048G>A	NP_060405.4:p.Ala350Thr
XM_017008337.2:c.958G>A	XP_016863826.1:p.Ala320Thr
NM_017935.5:c.1048G>A MANE Select	NP_060405.5:p.Ala350Thr
NM_001083907.3:c.958G>A	NP_001077376.3:p.Ala320Thr
NM_001127507.3:c.649G>A	NP_001120979.3:p.Ala217Thr